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H-Invitational ID: HIT000484993 Accession number: EU515157 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
 
 

Transcript original information
Accession number EU515157.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (DYSF) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (DYSF);
Sequence data provider NA
Annotation project NA
Length of cDNA 6739[bp] (No. of exon:56)[A:1496 T:1326 G:1943 C:1974]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG;  CAGGAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0002152
Genomic location  G-integra Help Chromosome 2
Location 2p13.2
Position 71680852- 71913778
Strand +
Possible duplicated location(s) NA
Gene structure 56 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291
KEGG GENES KEGG GENES(8291)
GeneCard GeneCardDYSF*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000204455
Predicted CDS 278..6583;  2101[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.829
Database links RefSeq NP_001124450
UniProt NA
CCDS CCDS46326

Motif information
ORF

length(2101),orf(278:6583)
MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGF
EWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSAS
FNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDV
VADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGI
KRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTK
RTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEA
PLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMD
NVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAV
KPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGV
AYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYL
PWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQC
STEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQ
ITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQG
DKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPV
QIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFV
EEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWS
...
a.a.
length
InterPro Name
length(85), motif(1:85) 85 IPR000008 C2 domain [Domain]
length(138), motif(1:138) 138 IPR000008 C2 domain [Domain]
length(100), motif(1:100) 100 IPR000008 C2 domain [Domain]
length(123), motif(1:123) 123 IPR000008 C2 domain [Domain]
length(84), motif(2:85) 84 IPR000008 C2 domain [Domain]
length(138), motif(207:344) 138 IPR000008 C2 domain [Domain]
length(134), motif(215:348) 134 IPR000008 C2 domain [Domain]
length(97), motif(221:317) 97 IPR000008 C2 domain [Domain]
length(82), motif(221:302) 82 IPR000008 C2 domain [Domain]
length(79), motif(223:301) 79 IPR000008 C2 domain [Domain]
length(72), motif(303:374) 72 IPR012968 FerIin domain [Domain]
length(14), motif(332:345) 14 IPR000008 C2 domain [Domain]
length(112), motif(377:488) 112 IPR000008 C2 domain [Domain]
length(113), motif(380:492) 113 IPR000008 C2 domain [Domain]
length(115), motif(380:494) 115 IPR000008 C2 domain [Domain]
length(96), motif(383:478) 96 IPR000008 C2 domain [Domain]
length(97), motif(383:479) 97 IPR000008 C2 domain [Domain]
length(66), motif(694:759) 66 IPR012560 Ferlin A-domain [Domain]
length(76), motif(786:861) 76 IPR012561 Ferlin B-domain [Domain]
length(60), motif(874:933) 60 IPR006614 Peroxin/Ferlin domain [Domain]
length(57), motif(946:1002) 57 IPR006614 Peroxin/Ferlin domain [Domain]
length(96), motif(949:1044) 96 IPR010482 Peroxin/Dysferlin domain [Domain]
length(39), motif(1011:1049) 39 IPR006614 Peroxin/Ferlin domain [Domain]
length(34), motif(1068:1101) 34 IPR006614 Peroxin/Ferlin domain [Domain]
length(144), motif(1136:1279) 144 IPR000008 C2 domain [Domain]
length(106), motif(1139:1244) 106 IPR000008 C2 domain [Domain]
length(126), motif(1150:1275) 126 IPR000008 C2 domain [Domain]
length(109), motif(1153:1261) 109 IPR000008 C2 domain [Domain]
length(90), motif(1154:1243) 90 IPR000008 C2 domain [Domain]
length(120), motif(1313:1432) 120 IPR000008 C2 domain [Domain]
length(88), motif(1336:1423) 88 IPR000008 C2 domain [Domain]
length(100), motif(1338:1437) 100 IPR000008 C2 domain [Domain]
length(82), motif(1340:1421) 82 IPR000008 C2 domain [Domain]
length(120), motif(1584:1703) 120 IPR000008 C2 domain [Domain]
length(99), motif(1586:1684) 99 IPR000008 C2 domain [Domain]
length(106), motif(1592:1697) 106 IPR000008 C2 domain [Domain]
length(100), motif(1600:1699) 100 IPR000008 C2 domain [Domain]
length(82), motif(1602:1683) 82 IPR000008 C2 domain [Domain]
length(25), motif(1787:1811) 25 IPR000008 C2 domain [Domain]
length(158), motif(1801:1958) 158 IPR000008 C2 domain [Domain]
length(197), motif(1817:2013) 197 IPR000008 C2 domain [Domain]
length(130), motif(1833:1962) 130 IPR000008 C2 domain [Domain]
length(24), motif(1923:1946) 24 IPR000008 C2 domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000484993
H-Inv cluster ID Locus viewHIX0002152
Accession number EU515157.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (O75923)  [Identity/coverage = 99.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 9731526973152710196375101963771049627711134403111982841146831211532985119598631279653414678801147020391511637715318348154694491547751515515206158156211583526916010686161007121670571116896923169599741699654117185750172874501736362017554076183061671885345921269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol DYSF
HGNC aliases "limb girdle muscular dystrophy 2B (autosomal recessive)"
HGNC name dysferlin
DDBJ DYSF
UniProt DYSF
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000204455
No. of interaction 15
Interaction partner(s) HIP000005984HIP000005984HIP000022280HIP000027204HIP000029476HIP000030967HIP000043701HIP000043701HIP000054389HIP000056159HIP000066028HIP000080031HIP000086697HIP000100735HIP000113370
BIND NA
DIP NA
MINT NA
HPRD 01060;  01061;  03154; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291
KEGG GENES KEGG GENES(8291)
GeneCard GeneCardDYSF*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function protein binding (GO:0005515); 
Cellular component integral to membrane (GO:0016021); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  mitochondria;  peroxisome;  Other; 
Target P Other
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
1 123 2cjsA1 3e-15 17.4 115/149 b.7.1.1
210 321 1n05A 1e-13 12.8 109/142 b.43.5.1
380 485 1djgA2 7e-09 17.0 91/131 b.7.1.1
882 1021 1uypA2 2e-10 12.5 136/294 b.67.2.3
1151 1278 1wfjA 3e-19 21.2 118/136 b.7.1.2
1601 1700 1gmiA 7e-16 12.0 97/135 b.7.1.1
1834 1955 1a25A 1e-07 18.9 96/132 b.7.1.2
Related H-InvDB links GTOP GTOP

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Miyoshi myopathy (254130);  Disease name: Muscular dystrophy, limb-girdle, type 2B (253601);  Disease name: Myopathy, distal, with anterior tibial onset (606768); 
Related information in OMIM OMIM ID:  603009;  Title: DYSFERLIN
Co-localized orphan diseases NA
Disease related mutation MutationView:  603009
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(8291)
Disease Entrez Gene ID:(8291)
Substance Entrez Gene ID:(8291)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
99 .. 99 C/A rs6741336 + 5'UTR
234 .. 234 C/T rs199569685 + 5'UTR
244 .. 244 G/T rs192358316 + 5'UTR
323 .. 323 G/A rs140603487 + CDS Nonsynonymous[Asp16Asn]
402 .. 402 T/G rs199772109 + CDS Nonsynonymous[Val42Gly]
475 .. 475 T/C rs182555653 + CDS Synonymous[His66His]
479 .. 479 G/C rs114986640 + CDS Nonsynonymous[Val68Leu]
481 .. 481 G/A rs143247586 + CDS Synonymous[Val68Val]
485 .. 485 A/G rs186523644 + CDS Nonsynonymous[Lys70Glu]
492 .. 492 A/G rs192395031 + CDS Nonsynonymous[His72Arg]
499 .. 499 G/A rs200957354 + CDS Synonymous[Thr74Thr]
502 .. 502 G/A rs143761164 + CDS Nonsynonymous[Met75Ile]
553 .. 553 C/T rs138870937 + CDS Synonymous[Leu92Leu]
582 .. 582 A/G rs201834175 + CDS Nonsynonymous[Asn102Ser]
624 .. 624 C/T rs199677396 + CDS Nonsynonymous[Ser116Leu]
660 .. 660 G/A rs34997054 - CDS Nonsynonymous[Gly128Glu]
670 .. 670 C/T rs34603128 - CDS Synonymous[Pro131Pro]
703 .. 703 C/T rs115390288 + CDS Synonymous[Ser142Ser]
705 .. 705 C/A rs139654844 + CDS Nonsynonymous[Pro143Gln]
717 .. 717 A/G rs113919086 + CDS Nonsynonymous[Asp147Gly]
740 .. 740 G/A rs200970855 + CDS Nonsynonymous[Gly155Arg]
746 .. 746 G/A rs151054827 + CDS Nonsynonymous[Glu157Lys]
754 .. 754 C/T rs201335551 + CDS Synonymous[Asp159Asp]
769 .. 769 A/G rs141002437 + CDS Synonymous[Gly164Gly]
773 .. 773 A/C rs142265349 + CDS Nonsynonymous[Thr166Pro]
786 .. 786 C/A rs34999029 - CDS Nonsynonymous[Ala170Glu]
809 .. 809 G/A rs143562525 + CDS Nonsynonymous[Gly178Arg]
817 .. 817 G/T rs185711021 + CDS Synonymous[Pro180Pro]
829 .. 829 C/T rs201607397 + CDS Synonymous[Thr184Thr]
842 .. 842 C/G rs13407355 + CDS Nonsynonymous[Leu189Val]
847 .. 847 T/C rs35392229 - CDS Synonymous[Pro190Pro]
858 .. 858 C/A rs201980470 + CDS Nonsynonymous[Pro194Gln]
863 .. 863 C/A rs146382803 + CDS Nonsynonymous[His196Asn]
899 .. 899 A/G rs150029218 + CDS Nonsynonymous[Thr208Ala]
915 .. 915 T/C rs148739795 + CDS Nonsynonymous[Leu213Pro]
927 .. 927 C/T rs147876220 + CDS Nonsynonymous[Pro217Leu]
947 .. 947 G/A rs145360241 + CDS Nonsynonymous[Val224Ile]
953 .. 953 G/A rs150345121 + CDS Nonsynonymous[Val226Met]
955 .. 955 G/A rs201797348 + CDS Synonymous[Val226Val]
958 .. 958 C/T rs138054675 + CDS Synonymous[Ile227Ile]
975 .. 975 C/T rs143053635 + CDS Nonsynonymous[Pro233Leu]
978 .. 978 G/A rs141497053 + CDS Nonsynonymous[Gly234Glu]
979 .. 979 G/A rs138466537 + CDS Synonymous[Gly234Gly]
984 .. 984 A/C rs150917600 + CDS Nonsynonymous[Asn236Thr]
1034 .. 1034 C/T rs149827237 + CDS Nonsynonymous[Arg253Trp]
1035 .. 1035 G/A rs140002194 + CDS Nonsynonymous[Arg253Gln]
1066 .. 1066 T/G rs201550600 + CDS Nonsynonymous[Asn263Lys]
1117 .. 1117 G/T rs111581279 + CDS Nonsynonymous[Glu280Asp]
1126 .. 1126 T/C rs147675576 + CDS Synonymous[Phe283Phe]
1159 .. 1159 A/T rs112007817 + CDS Synonymous[Thr294Thr]
1171 .. 1171 C/T rs140809078 + CDS Synonymous[Leu298Leu]
1172 .. 1172 G/A/T rs121908963 + CDS
1181 .. 1181 C/T rs184771575 + CDS Nonsynonymous[Arg302Trp]
1189 .. 1189 C/T rs146687581 + CDS Synonymous[Asp304Asp]
1219 .. 1219 C/T rs36122356 - CDS Synonymous[His314His]
1246 .. 1246 C/G rs143370670 + CDS Synonymous[Leu323Leu]
1326 .. 1326 C/T rs115279465 + CDS Nonsynonymous[Ala350Val]
1330 .. 1330 T/G rs199955501 + CDS Synonymous[Pro351Pro]
1397 .. 1397 G/C rs150724610 + CDS Nonsynonymous[Val374Leu]
1430 .. 1430 G/A rs200281572 + CDS Nonsynonymous[Val385Ile]
1462 .. 1462 C/T rs147244033 + CDS Synonymous[Asp395Asp]
1469 .. 1469 G/A rs144202114 + CDS Nonsynonymous[Val398Met]
1492 .. 1492 C/T rs148697028 + CDS Synonymous[Ile405Ile]
1510 .. 1510 C/A rs143355224 + CDS Nonsynonymous[Asn411Lys]
1551 .. 1551 C/T rs146588926 + CDS Nonsynonymous[Ala425Val]
1552 .. 1552 G/A/C rs140667960 + CDS
1588 .. 1588 G/A/T rs150093305 + CDS
1628 .. 1628 A/G rs141818764 + CDS Nonsynonymous[Met451Val]
1630 .. 1630 G/A rs146064054 + CDS Nonsynonymous[Met451Ile]
1639 .. 1639 C/T rs200803090 + CDS Synonymous[Ser454Ser]
1645 .. 1645 C/T rs202044973 + CDS Synonymous[Cys456Cys]
1646 .. 1646 G/A rs61740288 + CDS Nonsynonymous[Glu457Lys]
1662 .. 1662 G/A rs199879861 + CDS Nonsynonymous[Arg462His]
1675 .. 1675 G/A rs141400095 + CDS AA-STOP[Trp466*]
1679 .. 1679 C/T rs185119682 + CDS Nonsynonymous[Arg468Cys]
1699 .. 1699 C/T rs34387018 - CDS Synonymous[Ile474Ile]
1725 .. 1725 C/T rs139258703 + CDS Nonsynonymous[Ser483Leu]
1785 .. 1785 C/T rs144931729 + CDS Nonsynonymous[Ser503Leu]
1789 .. 1789 A/T rs149066183 + CDS Nonsynonymous[Lys504Asn]
1832 .. 1832 G/A rs121908962 + CDS Nonsynonymous[Gly519Arg]
1849 .. 1849 C/T rs139495331 + CDS Synonymous[Asn524Asn]
1891 .. 1891 C/A rs180970066 + CDS Synonymous[Pro538Pro]
1897 .. 1897 A/G rs147101870 + CDS Synonymous[Thr540Thr]
1907 .. 1907 A/C rs201443353 + CDS Nonsynonymous[Thr544Pro]
1916 .. 1916 G/A rs200236226 + CDS Nonsynonymous[Gly547Arg]
1944 .. 1944 T/C rs200916654 + CDS Nonsynonymous[Leu556Pro]
1999 .. 1999 C/T rs199554105 + CDS Synonymous[Asp574Asp]
2007 .. 2007 C/T rs201515915 + CDS Nonsynonymous[Ala577Val]
2008 .. 2008 G/A rs35984374 - CDS Synonymous[Ala577Ala]
2021 .. 2021 C/T rs149386446 + CDS Nonsynonymous[Arg582Trp]
2032 .. 2032 G/T rs144675204 + CDS Nonsynonymous[Lys585Asn]
2047 ^ 2048 -/C rs34644852 + CDS
2064 .. 2064 C/T rs146261069 + CDS Nonsynonymous[Ala596Val]
2090 .. 2090 C/T rs121908953 + CDS AA-STOP[Gln605*]
2104 .. 2104 T/C rs2303596 + CDS Synonymous[Asp609Asp]
2129 .. 2129 G/A rs201049092 + CDS Nonsynonymous[Gly618Arg]
2137 .. 2137 C/T rs35721373 - CDS Synonymous[Tyr620Tyr]
2143 .. 2143 C/G rs141080184 + CDS Nonsynonymous[Asn622Lys]
2146 .. 2146 G/A rs147738382 + CDS Synonymous[Lys623Lys]
2150 .. 2150 G/A/T rs121908960 + CDS
2154 .. 2154 T/C rs141867897 + CDS Nonsynonymous[Met626Thr]
2167 .. 2167 G/A rs115849497 + CDS Synonymous[Pro630Pro]
2193 .. 2193 G/A rs150417363 + CDS Nonsynonymous[Arg639His]
2207 .. 2207 G/A rs200195517 + CDS Nonsynonymous[Gly644Arg]
2239 .. 2239 C/T rs199565036 + CDS Synonymous[Asn654Asn]
2240 .. 2240 G/A rs200611218 + CDS Nonsynonymous[Val655Met]
2243 .. 2243 A/G rs139754493 + CDS Nonsynonymous[Lys656Glu]
2257 .. 2257 G/A rs138111360 + CDS Synonymous[Val660Val]
2268 .. 2268 A/C rs200380100 + CDS Nonsynonymous[Tyr664Ser]
2282 .. 2282 A/G rs113450735 + CDS Nonsynonymous[Ser669Gly]
2311 .. 2311 G/T rs200541431 + CDS Synonymous[Leu678Leu]
2327 .. 2327 C/T rs148652047 + CDS Nonsynonymous[Arg684Trp]
2330 .. 2330 C/G rs74423119 + CDS Nonsynonymous[Leu685Val]
2370 .. 2370 C/T rs145007061 + CDS Nonsynonymous[Ala698Val]
2371 .. 2371 G/A rs201239189 + CDS Synonymous[Ala698Ala]
2374 .. 2374 G/A rs149864346 + CDS Synonymous[Gln699Gln]
2390 .. 2390 G/A rs182450244 + CDS Nonsynonymous[Val705Met]
2439 .. 2439 G/A rs143304754 + CDS Nonsynonymous[Ser721Asn]
2449 .. 2449 G/A rs145868833 + CDS Synonymous[Leu724Leu]
2480 .. 2480 C/A rs202123283 + CDS Nonsynonymous[His735Asn]
2488 .. 2488 C/T rs143773517 + CDS Synonymous[Asp737Asp]
2500 .. 2500 C/T rs200188905 + CDS Synonymous[Tyr741Tyr]
2507 .. 2507 C/T rs181551438 + CDS Nonsynonymous[Arg744Cys]
2539 .. 2539 T/C rs141314294 + CDS Synonymous[Ala754Ala]
2557 .. 2557 C/T rs116204385 + CDS Synonymous[Leu760Leu]
2558 .. 2558 G/A rs138654170 + CDS Nonsynonymous[Gly761Ser]
2585 .. 2585 G/C rs147412635 + CDS Nonsynonymous[Glu770Gln]
2609 .. 2609 C/T rs143568054 + CDS Nonsynonymous[Arg778Cys]
2610 .. 2610 G/A rs185891286 + CDS Nonsynonymous[Arg778His]
2625 .. 2625 C/T rs147139414 + CDS Nonsynonymous[Ala783Val]
2649 .. 2649 C/G rs121908956 + CDS Nonsynonymous[Pro791Arg]
2650 .. 2650 G/A rs139422989 + CDS Synonymous[Pro791Pro]
2700 .. 2700 G/A rs35297901 + CDS Nonsynonymous[Arg808Gln]
2705 .. 2705 C/A rs146819460 + CDS Nonsynonymous[Pro810Thr]
2707 .. 2707 C/T rs143667543 + CDS Synonymous[Pro810Pro]
2771 .. 2771 C/T rs199543257 + CDS AA-STOP[Gln832*]
2777 .. 2777 A/G rs34671418 - CDS Nonsynonymous[Ile834Val]
2794 .. 2794 G/T rs200494473 + CDS Synonymous[Pro839Pro]
2804 .. 2804 G/T rs201754947 + CDS Nonsynonymous[Val843Leu]
2813 .. 2813 G/A rs143632564 + CDS Nonsynonymous[Ala846Thr]
2816 .. 2816 C/T rs200487610 + CDS Nonsynonymous[Arg847Trp]
2845 .. 2845 G/A rs191337920 + CDS Synonymous[Leu856Leu]
2860 .. 2860 T/A rs2288355 - CDS Synonymous[Ser861Ser]
2865 .. 2865 A/C rs35884879 - CDS Nonsynonymous[Asp863Ala]
2866 .. 2866 T/G rs146153109 + CDS Nonsynonymous[Asp863Glu]
2891 .. 2891 G/A rs200049922 + CDS Nonsynonymous[Glu872Lys]
2923 .. 2923 T/C rs149979662 + CDS Synonymous[Tyr882Tyr]
2945 .. 2945 C/T rs141264366 + CDS Nonsynonymous[Leu890Phe]
2948 .. 2948 G/A rs201622087 + CDS Nonsynonymous[Val891Ile]
2952 .. 2952 G/A rs201178528 + CDS Nonsynonymous[Gly892Glu]
2980 .. 2980 C/T rs200439327 + CDS Synonymous[Tyr901Tyr]
3040 .. 3040 G/A rs148902254 + CDS Synonymous[Ser921Ser]
3046 .. 3046 C/T rs138212696 + CDS Synonymous[Gly923Gly]
3070 .. 3070 C/T rs146006518 + CDS Synonymous[Phe931Phe]
3078 .. 3078 C/T rs150717638 + CDS Nonsynonymous[Pro934Leu]
3079 .. 3079 G/A rs34836829 - CDS Synonymous[Pro934Pro]
3087 .. 3087 C/T rs201209494 + CDS Nonsynonymous[Thr937Ile]
3106 .. 3106 C/T rs143775913 + CDS Synonymous[Asp943Asp]
3151 .. 3151 C/G rs148531939 + CDS Synonymous[Thr958Thr]
3152 .. 3152 C/T rs202218890 + CDS Nonsynonymous[Arg959Trp]
3160 .. 3160 C/T rs192717273 + CDS Synonymous[Pro961Pro]
3161 .. 3161 G/A rs151064013 + CDS Nonsynonymous[Gly962Arg]
3179 .. 3179 A/T rs144636654 + CDS Nonsynonymous[Met968Leu]
3197 .. 3197 G/A rs200422222 + CDS Nonsynonymous[Asp974Asn]
3205 .. 3205 C/T rs142404822 + CDS Synonymous[Asn976Asn]
3225 .. 3225 A/C rs34061568 - CDS Nonsynonymous[Lys983Thr]
3274 .. 3274 G/T rs28937581 + CDS Nonsynonymous[Trp999Cys]
3299 .. 3299 G/A rs200943384 + CDS Nonsynonymous[Asp1008Asn]
3310 .. 3310 C/G rs36077172 - CDS Synonymous[Gly1011Gly]
3334 .. 3334 C/T rs143475751 + CDS Synonymous[Pro1019Pro]
3342 .. 3342 G/A rs34211915 - CDS Nonsynonymous[Arg1022Gln]
3357 .. 3357 G/C rs142289638 + CDS Nonsynonymous[Trp1027Ser]
3390 .. 3390 G/A rs150877497 + CDS Nonsynonymous[Arg1038Gln]
3393 .. 3393 G/A rs149617331 + CDS Nonsynonymous[Arg1039Gln]
3394 .. 3394 G/A rs200311551 + CDS Synonymous[Arg1039Arg]
3398 .. 3398 C/T rs144598063 + CDS Nonsynonymous[Arg1041Cys]
3399 ^ 3400 -/A rs34551069 + CDS
3414 .. 3414 G/A rs121908958 + CDS Nonsynonymous[Arg1046His]
3435 .. 3435 T/G rs199679773 + CDS Nonsynonymous[Met1053Arg]
3452 .. 3452 C/T rs147886481 + CDS Nonsynonymous[His1059Tyr]
3458 .. 3458 C/G rs202034789 + CDS Nonsynonymous[Gln1061Glu]
3462 .. 3462 C/T rs142193283 + CDS Nonsynonymous[Ala1062Val]
3468 .. 3468 C/T rs200637035 + CDS Nonsynonymous[Ala1064Val]
3471 .. 3471 A/G rs200332119 - CDS Nonsynonymous[Glu1065Gly]
3490 .. 3490 C/T rs150355624 + CDS Synonymous[Tyr1071Tyr]
3491 .. 3491 G/C rs34660230 - CDS Nonsynonymous[Ala1072Pro]
3520 .. 3520 C/T rs144936357 + CDS Synonymous[Leu1081Leu]
3521 .. 3521 G/C rs144599077 + CDS Nonsynonymous[Glu1082Gln]
3526 .. 3526 C/T rs201477760 + CDS Synonymous[Tyr1083Tyr]
3555 .. 3555 G/C rs111488441 + CDS Nonsynonymous[Arg1093Pro]
3560 .. 3560 C/T rs141536854 + CDS Nonsynonymous[Arg1095Cys]
3563 .. 3563 C/T rs148171293 + CDS Nonsynonymous[Arg1096Cys]
3564 .. 3564 G/A rs59915619 + CDS Nonsynonymous[Arg1096His]
3566 .. 3566 C/T rs147483765 + CDS Nonsynonymous[Arg1097Cys]
3589 .. 3589 G/A rs149986783 + CDS Synonymous[Thr1104Thr]
3591 .. 3591 G/A rs148489131 + CDS Nonsynonymous[Gly1105Glu]
3620 .. 3620 G/A rs200334333 + CDS Nonsynonymous[Ala1115Thr]
3629 .. 3629 G/A rs202000264 + CDS Nonsynonymous[Gly1118Ser]
3631 .. 3631 C/T rs146498307 + CDS Synonymous[Gly1118Gly]
3632 .. 3632 G/A rs144634077 + CDS Nonsynonymous[Val1119Met]
3665 .. 3665 G/A rs148925399 + CDS Nonsynonymous[Val1130Ile]
3699 .. 3699 C/T rs140058659 + CDS Nonsynonymous[Thr1141Met]
3724 .. 3724 G/A rs138317526 + CDS Synonymous[Gly1149Gly]
3728 .. 3728 C/T rs200719174 + CDS Nonsynonymous[Arg1151Cys]
3764 .. 3764 G/A rs139194093 + CDS Nonsynonymous[Asp1163Asn]
3775 .. 3775 G/A rs201319864 + CDS Synonymous[Ala1166Ala]
3811 .. 3811 C/T rs79899601 + CDS Synonymous[Ile1178Ile]
3824 .. 3824 C/T rs150623923 + CDS Nonsynonymous[His1183Tyr]
3830 .. 3830 A/G rs139194366 + CDS Nonsynonymous[Ser1185Gly]
3883 .. 3883 G/A rs139897804 + CDS Synonymous[Thr1202Thr]
3895 .. 3895 C/T rs143393575 + CDS Synonymous[Tyr1206Tyr]
3901 .. 3901 C/G/T rs148858485 + CDS
3918 .. 3918 C/T rs150942486 + CDS Nonsynonymous[Pro1214Leu]
3919 .. 3919 G/A rs139364929 + CDS Synonymous[Pro1214Pro]
3940 .. 3940 G/A rs150444588 + CDS Synonymous[Pro1221Pro]
3969 .. 3969 A/G rs79608837 + CDS Nonsynonymous[His1231Arg]
3979 .. 3979 T/C rs141720146 + CDS Synonymous[Tyr1234Tyr]
4002 .. 4002 G/A rs2303603 + CDS Nonsynonymous[Arg1242His]
4007 .. 4007 A/G rs200942650 + CDS Nonsynonymous[Ile1244Val]
4037 .. 4037 C/T rs146970014 + CDS Nonsynonymous[Arg1254Trp]
4048 .. 4048 G/C rs141420226 + CDS Nonsynonymous[Trp1257Cys]
4059 .. 4059 C/T rs202013788 + CDS Nonsynonymous[Thr1261Met]
4065 .. 4065 G/C rs200330006 + CDS Nonsynonymous[Gly1263Ala]
4075 .. 4075 G/A rs139983909 + CDS Synonymous[Pro1266Pro]
4130 .. 4130 C/T rs202061751 + CDS Nonsynonymous[His1285Tyr]
4169 .. 4169 A/G rs121908954 + CDS Nonsynonymous[Ile1298Val]
4177 .. 4177 T/A rs201998440 + CDS Nonsynonymous[Asp1300Glu]
4191 .. 4191 C/A rs116426399 + CDS Nonsynonymous[Thr1305Lys]
4193 .. 4193 G/A rs149023297 + CDS Nonsynonymous[Asp1306Asn]
4228 .. 4228 C/T rs201966225 + CDS Synonymous[Asn1317Asn]
4244 .. 4244 C/G rs147950418 + CDS Nonsynonymous[Gln1323Glu]
4249 .. 4249 C/T rs11558179 - CDS Synonymous[Asn1324Asn]
4250 .. 4250 A/G rs145401010 + CDS Nonsynonymous[Ile1325Val]
4260 .. 4260 C/T rs201476613 + CDS Nonsynonymous[Ala1328Val]
4269 .. 4269 G/T rs61742872 + CDS Nonsynonymous[Arg1331Leu]
4273 .. 4273 C/T rs138751942 + CDS Synonymous[Thr1332Thr]
4277 .. 4277 A/G rs146242836 + CDS Nonsynonymous[Ile1334Val]
4285 .. 4285 C/A rs2303606 + CDS Synonymous[Ile1336Ile]
4301 .. 4301 C/T rs199870606 + CDS Nonsynonymous[Arg1342Trp]
4329 .. 4329 A/G rs139529811 + CDS Nonsynonymous[Asn1351Ser]
4345 .. 4345 C/T rs2303607 + CDS Synonymous[Ser1356Ser]
4366 .. 4366 C/T rs145412880 + CDS Synonymous[Gly1363Gly]
4371 .. 4371 C/T rs149182447 + CDS Nonsynonymous[Thr1365Met]
4475 .. 4475 C/G/T rs151268930 + CDS
4476 .. 4476 C/G rs138268837 + CDS Nonsynonymous[Pro1400Arg]
4477 .. 4477 C/T rs142769942 + CDS Synonymous[Pro1400Pro]
4502 .. 4502 C/T rs138097846 + CDS Nonsynonymous[Arg1409Cys]
4564 .. 4564 G/A rs144072850 + CDS Synonymous[Leu1429Leu]
4572 .. 4572 C/A rs142776870 + CDS Nonsynonymous[Pro1432His]
4578 .. 4578 C/T rs139411595 + CDS Nonsynonymous[Ser1434Leu]
4595 .. 4595 C/T rs151109021 + CDS Nonsynonymous[Pro1440Ser]
4600 .. 4600 G/A rs76576806 + CDS Synonymous[Gln1441Gln]
4612 .. 4612 C/T rs61746816 + CDS Synonymous[Asp1445Asp]
4651 .. 4651 C/T rs145690047 + CDS Synonymous[Ile1458Ile]
4653 .. 4653 A/G rs61738567 + CDS Nonsynonymous[Asp1459Gly]
4765 .. 4765 C/T rs148055736 + CDS Synonymous[Ile1496Ile]
4820 .. 4820 T/C rs150139276 + CDS Nonsynonymous[Tyr1515His]
4831 .. 4831 G/T rs182185801 + CDS Nonsynonymous[Lys1518Asn]
4842 .. 4842 C/A rs200809348 + CDS Nonsynonymous[Thr1522Asn]
4844 .. 4844 C/T rs7573406 + CDS Synonymous[Leu1523Leu]
4849 .. 4849 G/A rs199861501 + CDS Synonymous[Lys1524Lys]
4850 .. 4850 G/A rs143895253 + CDS Nonsynonymous[Val1525Ile]
4852 .. 4852 C/G rs142483266 + CDS Synonymous[Val1525Val]
4896 .. 4896 C/A rs201226634 + CDS Nonsynonymous[Ser1540Tyr]
4917 .. 4917 A/C rs76086153 + CDS Nonsynonymous[Lys1547Thr]
4926 .. 4926 G/A rs191383034 + CDS Nonsynonymous[Arg1550Gln]
4935 .. 4935 C/T rs144422408 + CDS Nonsynonymous[Thr1553Met]
5003 .. 5003 C/T rs149768871 + CDS Nonsynonymous[Pro1576Ser]
5015 .. 5015 G/A rs146213322 + CDS Nonsynonymous[Ala1580Thr]
5054 .. 5054 G/A rs143163327 + CDS Nonsynonymous[Ala1593Thr]
5071 .. 5071 G/A rs62145939 + CDS Synonymous[Glu1598Glu]
5082 .. 5082 G/A rs185596534 + CDS Nonsynonymous[Arg1602His]
5134 .. 5134 G/T rs141704244 + CDS Nonsynonymous[Lys1619Asn]
5159 .. 5159 A/G rs138357301 + CDS Nonsynonymous[Ile1628Val]
5160 .. 5160 T/C rs146384562 + CDS Nonsynonymous[Ile1628Thr]
5197 .. 5197 C/A rs113744167 + CDS Synonymous[Ile1640Ile]
5205 .. 5205 C/T rs144383140 + CDS Nonsynonymous[Thr1643Met]
5206 .. 5206 G/T rs142301132 + CDS Synonymous[Thr1643Thr]
5216 .. 5216 G/A rs147056383 + CDS Nonsynonymous[Val1647Ile]
5233 .. 5233 C/T rs151276652 + CDS Synonymous[Phe1652Phe]
5245 .. 5245 C/T rs149989207 + CDS Synonymous[Cys1656Cys]
5281 .. 5281 C/A rs141476432 + CDS Synonymous[Leu1668Leu]
5317 .. 5317 C/T rs149087116 + CDS Synonymous[Ile1680Ile]
5325 .. 5325 C/T rs143059463 + CDS Nonsynonymous[Thr1683Met]
5366 .. 5366 G/T rs141137410 + CDS Nonsynonymous[Ala1697Ser]
5370 .. 5370 G/A rs138472236 + CDS Nonsynonymous[Arg1698His]
5403 .. 5403 G/C rs146153532 + CDS Nonsynonymous[Gly1709Ala]
5439 .. 5439 A/T rs149408006 + CDS Nonsynonymous[Gln1721Leu]
5444 .. 5444 C/G rs11558178 - CDS Nonsynonymous[Leu1723Val]
5459 .. 5459 C/G rs199827126 + CDS Nonsynonymous[Gln1728Glu]
5489 .. 5489 C/T rs148541407 + CDS Nonsynonymous[Arg1738Trp]
5499 .. 5499 G/A rs147678255 + CDS Nonsynonymous[Arg1741His]
5541 .. 5541 A/G rs121908961 + CDS Nonsynonymous[Glu1755Gly]
5556 .. 5556 C/A rs145272777 + CDS Nonsynonymous[Pro1760Gln]
5584 .. 5584 G/A rs140812535 + CDS Synonymous[Glu1769Glu]
5643 .. 5643 G/A rs148860301 + CDS Nonsynonymous[Arg1789Gln]
5647 .. 5647 C/T rs137855767 + CDS Synonymous[Pro1790Pro]
5656 .. 5656 C/T rs200879908 + CDS Synonymous[Ser1793Ser]
5701 .. 5701 C/T rs145143725 + CDS Synonymous[Val1808Val]
5711 .. 5711 C/T rs145832952 + CDS Nonsynonymous[Pro1812Ser]
5721 .. 5721 T/C rs148382335 + CDS Nonsynonymous[Leu1815Pro]
5726 .. 5726 C/T rs139879284 + CDS Nonsynonymous[Arg1817Trp]
5832 .. 5832 C/T rs199649417 + CDS Nonsynonymous[Thr1852Met]
5837 .. 5837 G/A rs201592500 + CDS Nonsynonymous[Glu1854Lys]
5853 .. 5853 T/C rs191052325 + CDS Nonsynonymous[Ile1859Thr]
5910 .. 5910 A/G rs199601326 + CDS Nonsynonymous[His1878Arg]
5916 .. 5916 G/A rs143939123 + CDS Nonsynonymous[Arg1880His]
5966 .. 5966 G/A rs115013641 + CDS Nonsynonymous[Asp1897Asn]
6053 .. 6053 C/T rs121908959 + CDS AA-STOP[Arg1926*]
6131 .. 6131 C/T rs144116735 + CDS Nonsynonymous[Arg1952Cys]
6168 .. 6168 C/G rs142160134 + CDS Nonsynonymous[Ser1964Cys]
6169 .. 6169 C/G rs140341988 + CDS Synonymous[Ser1964Ser]
6199 .. 6199 A/C/T rs17718530 + CDS
6222 .. 6222 A/G rs11558176 - CDS Nonsynonymous[Glu1982Gly]
6258 .. 6258 C/T rs201784424 + CDS Nonsynonymous[Ala1994Val]
6286 .. 6286 G/A rs138936064 + CDS Synonymous[Ala2003Ala]
6305 .. 6305 T/C rs188223743 + CDS Synonymous[Leu2010Leu]
6323 .. 6323 A/C rs201890095 + CDS Nonsynonymous[Ser2016Arg]
6338 .. 6338 C/T rs149357145 + CDS Nonsynonymous[Arg2021Trp]
6339 .. 6339 G/A rs115407852 + CDS Nonsynonymous[Arg2021Gln]
6356 .. 6356 C/T rs200921075 + CDS Nonsynonymous[Arg2027Trp]
6377 .. 6377 C/A rs11558177 - CDS Nonsynonymous[Pro2034Thr]
6397 .. 6397 G/A rs143762717 + CDS Synonymous[Arg2040Arg]
6403 .. 6403 C/T rs147263499 + CDS Synonymous[Pro2042Pro]
6412 .. 6412 C/A rs200994941 + CDS Synonymous[Ser2045Ser]
6461 .. 6461 C/T rs200990851 + CDS Nonsynonymous[Arg2062Trp]
6464 .. 6464 C/T rs121908955 + CDS Nonsynonymous[Arg2063Cys]
6470 .. 6470 C/T rs185617318 + CDS Nonsynonymous[Arg2065Trp]
6479 .. 6479 A/G rs150834671 + CDS Nonsynonymous[Ile2068Val]
6506 .. 6506 C/T rs201725164 + CDS Synonymous[Leu2077Leu]
6543 .. 6543 C/T rs149732545 + CDS Nonsynonymous[Pro2089Leu]
6544 .. 6544 G/A rs139267208 + CDS Synonymous[Pro2089Pro]
6610 .. 6610 C/T rs199573560 + 3'UTR
6636 .. 6636 G/A rs114777968 + 3'UTR
6678 .. 6678 C/A rs1802426 + 3'UTR
6690 .. 6690 T/A rs11903223 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer