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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000014884 Accession number: AK074104 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Dysferlin isoform 9.
 
 

Transcript original information
Accession number AK074104.1
CAGE tag ID NA
EST ID NA
Clone Number FLJ00175
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 Project:FLJ; Provider:FLJ/KDRI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 4645[bp] (No. of exon:39)[A:1050 T:941 G:1313 C:1341]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type spleen
Develpmental stage adult
Mini-G
Sequence quality information
CDS feature N-truncated
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 71762179- 71913892
Strand +
Possible duplicated location(s) NA
Gene structure 39 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 HIP000118006
Predicted CDS 3..4553;  1516[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.834

Motif information
ORF

length(1516),orf(3:4553)
NPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAP
GGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAY
RGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSAT
MLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPW
GNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCST
EDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQIT
EAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDK
RVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQI
RVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYP
KFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEE
VFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTD
LNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQ
MEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLE
KTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRY
HLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQT
LIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERM
PRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDES
EDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANI
SSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPIT
VKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSP
...
a.a.
length
InterPro Name
length(40), motif(1:40) 40 IPR000008 C2 domain [Domain]
length(51), motif(1:51) 51 IPR000008 C2 domain [Domain]
length(50), motif(1:50) 50 IPR000008 C2 domain [Domain]
length(66), motif(242:307) 66 IPR012560 Ferlin A-domain [Domain]
length(76), motif(334:409) 76 IPR012561 Ferlin B-domain [Domain]
length(60), motif(422:481) 60 IPR006614 Peroxin/Ferlin domain [Domain]
length(57), motif(494:550) 57 IPR006614 Peroxin/Ferlin domain [Domain]
length(96), motif(497:592) 96 IPR010482 Peroxin/Dysferlin domain [Domain]
length(39), motif(559:597) 39 IPR006614 Peroxin/Ferlin domain [Domain]
length(34), motif(616:649) 34 IPR006614 Peroxin/Ferlin domain [Domain]
length(144), motif(684:827) 144 IPR000008 C2 domain [Domain]
length(106), motif(687:792) 106 IPR000008 C2 domain [Domain]
length(126), motif(698:823) 126 IPR000008 C2 domain [Domain]
length(109), motif(701:809) 109 IPR000008 C2 domain [Domain]
length(90), motif(702:791) 90 IPR000008 C2 domain [Domain]
length(120), motif(861:980) 120 IPR000008 C2 domain [Domain]
length(88), motif(884:971) 88 IPR000008 C2 domain [Domain]
length(100), motif(886:985) 100 IPR000008 C2 domain [Domain]
length(82), motif(888:969) 82 IPR000008 C2 domain [Domain]
length(120), motif(1111:1230) 120 IPR000008 C2 domain [Domain]
length(99), motif(1113:1211) 99 IPR000008 C2 domain [Domain]
length(106), motif(1119:1224) 106 IPR000008 C2 domain [Domain]
length(100), motif(1127:1226) 100 IPR000008 C2 domain [Domain]
length(82), motif(1129:1210) 82 IPR000008 C2 domain [Domain]
length(17), motif(1314:1330) 17 IPR000008 C2 domain [Domain]
length(157), motif(1328:1484) 157 IPR000008 C2 domain [Domain]
length(155), motif(1331:1485) 155 IPR000008 C2 domain [Domain]
length(130), motif(1360:1489) 130 IPR000008 C2 domain [Domain]
length(49), motif(1381:1429) 49 IPR000008 C2 domain [Domain]
length(22), motif(1452:1473) 22 IPR000008 C2 domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000014884
H-Inv cluster ID Locus viewHIX0002152
Accession number AK074104.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Dysferlin isoform 9.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_001124448)  [Identity/coverage = 99.597%/72.02%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
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 FLJ00175
UniProt NA
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 HIP000118006
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
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;  nuclear;  mitochondria; 
Target P Not predicted
SOSUI soluble protein
TMHMM soluble 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
418 557 1uypA2 6e-10 12.5 136/294 b.67.2.3
687 814 1wfjA 2e-19 21.2 118/136 b.7.1.2
889 958 2ep6A1 7e-04 18.6 63/126 b.7.1.1
1093 1203 1do6A 2e-16 9.2 109/124 b.1.13.1
1349 1466 1a25A 4e-07 18.6 92/132 b.7.1.2
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB030106; 
Affymetrix
GeneChip
HG-Focus 218660_at; 
HG-U133 218660_at; 
HG-U133A 218660_at; 
HG-U133A_2 218660_at; 
HG-U133B NA
HG-U133_Plus_2 218660_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2488287;  2488288;  2488291;  2488294;  2488295;  2488297;  2488298;  2488299;  2488303;  2488304;  2488308;  2488309;  2488310;  2488313;  2488314;  2488316;  2488324;  2488328;  2488334;  2488335;  2488336;  2488338;  2488342;  2488343;  2488345;  2488346;  2488359;  2488363;  2488364;  2488366;  2488367;  2488368;  2488369;  2488370;  2488372;  2488373;  2488375;  2488380;  2488395; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P39925; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P39925; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
39 .. 39 A/G rs141818764 + CDS Nonsynonymous[Met13Val]
41 .. 41 G/A rs146064054 + CDS Nonsynonymous[Met13Ile]
50 .. 50 C/T rs200803090 + CDS Synonymous[Ser16Ser]
56 .. 56 C/T rs202044973 + CDS Synonymous[Cys18Cys]
57 .. 57 G/A rs61740288 + CDS Nonsynonymous[Glu19Lys]
73 .. 73 G/A rs199879861 + CDS Nonsynonymous[Arg24His]
86 .. 86 G/A rs141400095 + CDS AA-STOP[Trp28*]
90 .. 90 C/T rs185119682 + CDS Nonsynonymous[Arg30Cys]
110 .. 110 C/T rs34387018 - CDS Synonymous[Ile36Ile]
136 .. 136 C/T rs139258703 + CDS Nonsynonymous[Ser45Leu]
201 .. 201 G/A rs121908962 + CDS Nonsynonymous[Gly67Arg]
218 .. 218 C/T rs139495331 + CDS Synonymous[Asn72Asn]
260 .. 260 C/A rs180970066 + CDS Synonymous[Pro86Pro]
266 .. 266 A/G rs147101870 + CDS Synonymous[Thr88Thr]
276 .. 276 A/C rs201443353 + CDS Nonsynonymous[Thr92Pro]
285 .. 285 G/A rs200236226 + CDS Nonsynonymous[Gly95Arg]
313 .. 313 T/C rs200916654 + CDS Nonsynonymous[Leu104Pro]
368 .. 368 C/T rs199554105 + CDS Synonymous[Asp122Asp]
376 .. 376 C/T rs201515915 + CDS Nonsynonymous[Ala125Val]
377 .. 377 A/G rs35984374 - CDS Synonymous[Ala125Ala]
390 .. 390 C/T rs149386446 + CDS Nonsynonymous[Arg130Trp]
401 .. 401 G/T rs144675204 + CDS Nonsynonymous[Lys133Asn]
416 ^ 417 -/C rs34644852 + CDS
433 .. 433 C/T rs146261069 + CDS Nonsynonymous[Ala144Val]
459 .. 459 C/T rs121908953 + CDS AA-STOP[Gln153*]
473 .. 473 C/T rs2303596 + CDS Synonymous[Asp157Asp]
498 .. 498 G/A rs201049092 + CDS Nonsynonymous[Gly166Arg]
506 .. 506 C/T rs35721373 - CDS Synonymous[Tyr168Tyr]
512 .. 512 C/G rs141080184 + CDS Nonsynonymous[Asn170Lys]
515 .. 515 G/A rs147738382 + CDS Synonymous[Lys171Lys]
519 .. 519 G/A/T rs121908960 + CDS
523 .. 523 T/C rs141867897 + CDS Nonsynonymous[Met174Thr]
536 .. 536 G/A rs115849497 + CDS Synonymous[Pro178Pro]
562 .. 562 G/A rs150417363 + CDS Nonsynonymous[Arg187His]
576 .. 576 G/A rs200195517 + CDS Nonsynonymous[Gly192Arg]
608 .. 608 C/T rs199565036 + CDS Synonymous[Asn202Asn]
609 .. 609 G/A rs200611218 + CDS Nonsynonymous[Val203Met]
612 .. 612 A/G rs139754493 + CDS Nonsynonymous[Lys204Glu]
626 .. 626 G/A rs138111360 + CDS Synonymous[Val208Val]
637 .. 637 A/C rs200380100 + CDS Nonsynonymous[Tyr212Ser]
651 .. 651 A/G rs113450735 + CDS Nonsynonymous[Ser217Gly]
680 .. 680 G/T rs200541431 + CDS Synonymous[Leu226Leu]
696 .. 696 C/T rs148652047 + CDS Nonsynonymous[Arg232Trp]
699 .. 699 C/G rs74423119 + CDS Nonsynonymous[Leu233Val]
739 .. 739 C/T rs145007061 + CDS Nonsynonymous[Ala246Val]
740 .. 740 G/A rs201239189 + CDS Synonymous[Ala246Ala]
743 .. 743 G/A rs149864346 + CDS Synonymous[Gln247Gln]
759 .. 759 G/A rs182450244 + CDS Nonsynonymous[Val253Met]
808 .. 808 G/A rs143304754 + CDS Nonsynonymous[Ser269Asn]
818 .. 818 G/A rs145868833 + CDS Synonymous[Leu272Leu]
849 .. 849 C/A rs202123283 + CDS Nonsynonymous[His283Asn]
857 .. 857 C/T rs143773517 + CDS Synonymous[Asp285Asp]
869 .. 869 C/T rs200188905 + CDS Synonymous[Tyr289Tyr]
876 .. 876 C/T rs181551438 + CDS Nonsynonymous[Arg292Cys]
908 .. 908 T/C rs141314294 + CDS Synonymous[Ala302Ala]
926 .. 926 C/T rs116204385 + CDS Synonymous[Leu308Leu]
927 .. 927 G/A rs138654170 + CDS Nonsynonymous[Gly309Ser]
954 .. 954 G/C rs147412635 + CDS Nonsynonymous[Glu318Gln]
978 .. 978 C/T rs143568054 + CDS Nonsynonymous[Arg326Cys]
979 .. 979 G/A rs185891286 + CDS Nonsynonymous[Arg326His]
994 .. 994 C/T rs147139414 + CDS Nonsynonymous[Ala331Val]
1018 .. 1018 C/G rs121908956 + CDS Nonsynonymous[Pro339Arg]
1019 .. 1019 G/A rs139422989 + CDS Synonymous[Pro339Pro]
1069 .. 1069 G/A rs35297901 + CDS Nonsynonymous[Arg356Gln]
1074 .. 1074 C/A rs146819460 + CDS Nonsynonymous[Pro358Thr]
1076 .. 1076 C/T rs143667543 + CDS Synonymous[Pro358Pro]
1140 .. 1140 C/T rs199543257 + CDS AA-STOP[Gln380*]
1146 .. 1146 A/G rs34671418 - CDS Nonsynonymous[Ile382Val]
1163 .. 1163 G/T rs200494473 + CDS Synonymous[Pro387Pro]
1173 .. 1173 G/T rs201754947 + CDS Nonsynonymous[Val391Leu]
1182 .. 1182 G/A rs143632564 + CDS Nonsynonymous[Ala394Thr]
1185 .. 1185 C/T rs200487610 + CDS Nonsynonymous[Arg395Trp]
1214 .. 1214 G/A rs191337920 + CDS Synonymous[Leu404Leu]
1229 .. 1229 T/A rs2288355 - CDS Synonymous[Ser409Ser]
1234 .. 1234 A/C rs35884879 - CDS Nonsynonymous[Asp411Ala]
1235 .. 1235 T/G rs146153109 + CDS Nonsynonymous[Asp411Glu]
1260 .. 1260 G/A rs200049922 + CDS Nonsynonymous[Glu420Lys]
1292 .. 1292 T/C rs149979662 + CDS Synonymous[Tyr430Tyr]
1314 .. 1314 C/T rs141264366 + CDS Nonsynonymous[Leu438Phe]
1317 .. 1317 G/A rs201622087 + CDS Nonsynonymous[Val439Ile]
1321 .. 1321 G/A rs201178528 + CDS Nonsynonymous[Gly440Glu]
1349 .. 1349 C/T rs200439327 + CDS Synonymous[Tyr449Tyr]
1409 .. 1409 G/A rs148902254 + CDS Synonymous[Ser469Ser]
1415 .. 1415 C/T rs138212696 + CDS Synonymous[Gly471Gly]
1439 .. 1439 C/T rs146006518 + CDS Synonymous[Phe479Phe]
1447 .. 1447 C/T rs150717638 + CDS Nonsynonymous[Pro482Leu]
1448 .. 1448 G/A rs34836829 - CDS Synonymous[Pro482Pro]
1456 .. 1456 C/T rs201209494 + CDS Nonsynonymous[Thr485Ile]
1475 .. 1475 C/T rs143775913 + CDS Synonymous[Asp491Asp]
1520 .. 1520 C/G rs148531939 + CDS Synonymous[Thr506Thr]
1521 .. 1521 C/T rs202218890 + CDS Nonsynonymous[Arg507Trp]
1529 .. 1529 C/T rs192717273 + CDS Synonymous[Pro509Pro]
1530 .. 1530 G/A rs151064013 + CDS Nonsynonymous[Gly510Arg]
1548 .. 1548 A/T rs144636654 + CDS Nonsynonymous[Met516Leu]
1566 .. 1566 G/A rs200422222 + CDS Nonsynonymous[Asp522Asn]
1574 .. 1574 C/T rs142404822 + CDS Synonymous[Asn524Asn]
1594 .. 1594 A/C rs34061568 - CDS Nonsynonymous[Lys531Thr]
1643 .. 1643 G/T rs28937581 + CDS Nonsynonymous[Trp547Cys]
1668 .. 1668 G/A rs200943384 + CDS Nonsynonymous[Asp556Asn]
1679 .. 1679 C/G rs36077172 - CDS Synonymous[Gly559Gly]
1703 .. 1703 C/T rs143475751 + CDS Synonymous[Pro567Pro]
1711 .. 1711 G/A rs34211915 - CDS Nonsynonymous[Arg570Gln]
1726 .. 1726 G/C rs142289638 + CDS Nonsynonymous[Trp575Ser]
1759 .. 1759 G/A rs150877497 + CDS Nonsynonymous[Arg586Gln]
1762 .. 1762 G/A rs149617331 + CDS Nonsynonymous[Arg587Gln]
1763 .. 1763 G/A rs200311551 + CDS Synonymous[Arg587Arg]
1767 .. 1767 C/T rs144598063 + CDS Nonsynonymous[Arg589Cys]
1768 ^ 1769 -/A rs34551069 + CDS
1783 .. 1783 G/A rs121908958 + CDS Nonsynonymous[Arg594His]
1804 .. 1804 T/G rs199679773 + CDS Nonsynonymous[Met601Arg]
1821 .. 1821 C/T rs147886481 + CDS Nonsynonymous[His607Tyr]
1827 .. 1827 C/G rs202034789 + CDS Nonsynonymous[Gln609Glu]
1831 .. 1831 C/T rs142193283 + CDS Nonsynonymous[Ala610Val]
1837 .. 1837 C/T rs200637035 + CDS Nonsynonymous[Ala612Val]
1840 .. 1840 A/G rs200332119 - CDS Nonsynonymous[Glu613Gly]
1859 .. 1859 C/T rs150355624 + CDS Synonymous[Tyr619Tyr]
1860 .. 1860 G/C rs34660230 - CDS Nonsynonymous[Ala620Pro]
1889 .. 1889 C/T rs144936357 + CDS Synonymous[Leu629Leu]
1890 .. 1890 G/C rs144599077 + CDS Nonsynonymous[Glu630Gln]
1895 .. 1895 C/T rs201477760 + CDS Synonymous[Tyr631Tyr]
1924 .. 1924 G/C rs111488441 + CDS Nonsynonymous[Arg641Pro]
1929 .. 1929 C/T rs141536854 + CDS Nonsynonymous[Arg643Cys]
1932 .. 1932 C/T rs148171293 + CDS Nonsynonymous[Arg644Cys]
1933 .. 1933 G/A rs59915619 + CDS Nonsynonymous[Arg644His]
1935 .. 1935 C/T rs147483765 + CDS Nonsynonymous[Arg645Cys]
1958 .. 1958 G/A rs149986783 + CDS Synonymous[Thr652Thr]
1960 .. 1960 G/A rs148489131 + CDS Nonsynonymous[Gly653Glu]
1989 .. 1989 G/A rs200334333 + CDS Nonsynonymous[Ala663Thr]
1998 .. 1998 G/A rs202000264 + CDS Nonsynonymous[Gly666Ser]
2000 .. 2000 C/T rs146498307 + CDS Synonymous[Gly666Gly]
2001 .. 2001 G/A rs144634077 + CDS Nonsynonymous[Val667Met]
2034 .. 2034 G/A rs148925399 + CDS Nonsynonymous[Val678Ile]
2068 .. 2068 C/T rs140058659 + CDS Nonsynonymous[Thr689Met]
2093 .. 2093 G/A rs138317526 + CDS Synonymous[Gly697Gly]
2097 .. 2097 C/T rs200719174 + CDS Nonsynonymous[Arg699Cys]
2133 .. 2133 G/A rs139194093 + CDS Nonsynonymous[Asp711Asn]
2144 .. 2144 G/A rs201319864 + CDS Synonymous[Ala714Ala]
2180 .. 2180 C/T rs79899601 + CDS Synonymous[Ile726Ile]
2193 .. 2193 C/T rs150623923 + CDS Nonsynonymous[His731Tyr]
2199 .. 2199 A/G rs139194366 + CDS Nonsynonymous[Ser733Gly]
2252 .. 2252 G/A rs139897804 + CDS Synonymous[Thr750Thr]
2264 .. 2264 C/T rs143393575 + CDS Synonymous[Tyr754Tyr]
2270 .. 2270 C/G/T rs148858485 + CDS
2287 .. 2287 C/T rs150942486 + CDS Nonsynonymous[Pro762Leu]
2288 .. 2288 G/A rs139364929 + CDS Synonymous[Pro762Pro]
2309 .. 2309 G/A rs150444588 + CDS Synonymous[Pro769Pro]
2338 .. 2338 A/G rs79608837 + CDS Nonsynonymous[His779Arg]
2348 .. 2348 T/C rs141720146 + CDS Synonymous[Tyr782Tyr]
2371 .. 2371 G/A rs2303603 + CDS Nonsynonymous[Arg790His]
2376 .. 2376 A/G rs200942650 + CDS Nonsynonymous[Ile792Val]
2406 .. 2406 C/T rs146970014 + CDS Nonsynonymous[Arg802Trp]
2417 .. 2417 G/C rs141420226 + CDS Nonsynonymous[Trp805Cys]
2428 .. 2428 C/T rs202013788 + CDS Nonsynonymous[Thr809Met]
2434 .. 2434 G/C rs200330006 + CDS Nonsynonymous[Gly811Ala]
2444 .. 2444 G/A rs139983909 + CDS Synonymous[Pro814Pro]
2499 .. 2499 C/T rs202061751 + CDS Nonsynonymous[His833Tyr]
2538 .. 2538 A/G rs121908954 + CDS Nonsynonymous[Ile846Val]
2546 .. 2546 T/A rs201998440 + CDS Nonsynonymous[Asp848Glu]
2560 .. 2560 C/A rs116426399 + CDS Nonsynonymous[Thr853Lys]
2562 .. 2562 G/A rs149023297 + CDS Nonsynonymous[Asp854Asn]
2597 .. 2597 C/T rs201966225 + CDS Synonymous[Asn865Asn]
2613 .. 2613 C/G rs147950418 + CDS Nonsynonymous[Gln871Glu]
2618 .. 2618 C/T rs11558179 - CDS Synonymous[Asn872Asn]
2619 .. 2619 A/G rs145401010 + CDS Nonsynonymous[Ile873Val]
2629 .. 2629 C/T rs201476613 + CDS Nonsynonymous[Ala876Val]
2638 .. 2638 G/T rs61742872 + CDS Nonsynonymous[Arg879Leu]
2642 .. 2642 C/T rs138751942 + CDS Synonymous[Thr880Thr]
2646 .. 2646 A/G rs146242836 + CDS Nonsynonymous[Ile882Val]
2654 .. 2654 A/C rs2303606 + CDS Synonymous[Ile884Ile]
2670 .. 2670 C/T rs199870606 + CDS Nonsynonymous[Arg890Trp]
2698 .. 2698 A/G rs139529811 + CDS Nonsynonymous[Asn899Ser]
2714 .. 2714 C/T rs2303607 + CDS Synonymous[Ser904Ser]
2735 .. 2735 C/T rs145412880 + CDS Synonymous[Gly911Gly]
2740 .. 2740 C/T rs149182447 + CDS Nonsynonymous[Thr913Met]
2844 .. 2844 C/G/T rs151268930 + CDS
2845 .. 2845 C/G rs138268837 + CDS Nonsynonymous[Pro948Arg]
2846 .. 2846 C/T rs142769942 + CDS Synonymous[Pro948Pro]
2871 .. 2871 C/T rs138097846 + CDS Nonsynonymous[Arg957Cys]
2933 .. 2933 G/A rs144072850 + CDS Synonymous[Leu977Leu]
2941 .. 2941 C/A rs142776870 + CDS Nonsynonymous[Pro980His]
2947 .. 2947 C/T rs139411595 + CDS Nonsynonymous[Ser982Leu]
2964 .. 2964 C/T rs151109021 + CDS Nonsynonymous[Pro988Ser]
2969 .. 2969 G/A rs76576806 + CDS Synonymous[Gln989Gln]
2981 .. 2981 C/T rs61746816 + CDS Synonymous[Asp993Asp]
3020 .. 3020 C/T rs145690047 + CDS Synonymous[Ile1006Ile]
3022 .. 3022 A/G rs61738567 + CDS Nonsynonymous[Asp1007Gly]
3071 .. 3071 C/T rs148055736 + CDS Synonymous[Ile1023Ile]
3126 .. 3126 T/C rs150139276 + CDS Nonsynonymous[Tyr1042His]
3137 .. 3137 G/T rs182185801 + CDS Nonsynonymous[Lys1045Asn]
3148 .. 3148 C/A rs200809348 + CDS Nonsynonymous[Thr1049Asn]
3150 .. 3150 C/T rs7573406 + CDS Synonymous[Leu1050Leu]
3155 .. 3155 G/A rs199861501 + CDS Synonymous[Lys1051Lys]
3156 .. 3156 G/A rs143895253 + CDS Nonsynonymous[Val1052Ile]
3158 .. 3158 C/G rs142483266 + CDS Synonymous[Val1052Val]
3202 .. 3202 C/A rs201226634 + CDS Nonsynonymous[Ser1067Tyr]
3223 .. 3223 A/C rs76086153 + CDS Nonsynonymous[Lys1074Thr]
3232 .. 3232 G/A rs191383034 + CDS Nonsynonymous[Arg1077Gln]
3241 .. 3241 C/T rs144422408 + CDS Nonsynonymous[Thr1080Met]
3309 .. 3309 C/T rs149768871 + CDS Nonsynonymous[Pro1103Ser]
3321 .. 3321 G/A rs146213322 + CDS Nonsynonymous[Ala1107Thr]
3360 .. 3360 G/A rs143163327 + CDS Nonsynonymous[Ala1120Thr]
3377 .. 3377 G/A rs62145939 + CDS Synonymous[Glu1125Glu]
3388 .. 3388 G/A rs185596534 + CDS Nonsynonymous[Arg1129His]
3440 .. 3440 G/T rs141704244 + CDS Nonsynonymous[Lys1146Asn]
3465 .. 3465 A/G rs138357301 + CDS Nonsynonymous[Ile1155Val]
3466 .. 3466 T/C rs146384562 + CDS Nonsynonymous[Ile1155Thr]
3503 .. 3503 C/A rs113744167 + CDS Synonymous[Ile1167Ile]
3511 .. 3511 C/T rs144383140 + CDS Nonsynonymous[Thr1170Met]
3512 .. 3512 G/T rs142301132 + CDS Synonymous[Thr1170Thr]
3522 .. 3522 G/A rs147056383 + CDS Nonsynonymous[Val1174Ile]
3539 .. 3539 C/T rs151276652 + CDS Synonymous[Phe1179Phe]
3551 .. 3551 C/T rs149989207 + CDS Synonymous[Cys1183Cys]
3587 .. 3587 C/A rs141476432 + CDS Synonymous[Leu1195Leu]
3623 .. 3623 C/T rs149087116 + CDS Synonymous[Ile1207Ile]
3631 .. 3631 C/T rs143059463 + CDS Nonsynonymous[Thr1210Met]
3672 .. 3672 G/T rs141137410 + CDS Nonsynonymous[Ala1224Ser]
3676 .. 3676 G/A rs138472236 + CDS Nonsynonymous[Arg1225His]
3709 .. 3709 G/C rs146153532 + CDS Nonsynonymous[Gly1236Ala]
3745 .. 3745 A/T rs149408006 + CDS Nonsynonymous[Gln1248Leu]
3750 .. 3750 C/G rs11558178 - CDS Nonsynonymous[Leu1250Val]
3765 .. 3765 C/G rs199827126 + CDS Nonsynonymous[Gln1255Glu]
3795 .. 3795 C/T rs148541407 + CDS Nonsynonymous[Arg1265Trp]
3805 .. 3805 G/A rs147678255 + CDS Nonsynonymous[Arg1268His]
3847 .. 3847 A/G rs121908961 + CDS Nonsynonymous[Glu1282Gly]
3862 .. 3862 C/A rs145272777 + CDS Nonsynonymous[Pro1287Gln]
3890 .. 3890 G/A rs140812535 + CDS Synonymous[Glu1296Glu]
3949 .. 3949 G/A rs148860301 + CDS Nonsynonymous[Arg1316Gln]
3953 .. 3953 C/T rs137855767 + CDS Synonymous[Pro1317Pro]
3962 .. 3962 C/T rs200879908 + CDS Synonymous[Ser1320Ser]
4007 .. 4007 C/T rs145143725 + CDS Synonymous[Val1335Val]
4017 .. 4017 C/T rs145832952 + CDS Nonsynonymous[Pro1339Ser]
4027 .. 4027 T/C rs148382335 + CDS Nonsynonymous[Leu1342Pro]
4032 .. 4032 C/T rs139879284 + CDS Nonsynonymous[Arg1344Trp]
4138 .. 4138 C/T rs199649417 + CDS Nonsynonymous[Thr1379Met]
4143 .. 4143 G/A rs201592500 + CDS Nonsynonymous[Glu1381Lys]
4159 .. 4159 T/C rs191052325 + CDS Nonsynonymous[Ile1386Thr]
4216 .. 4216 A/G rs199601326 + CDS Nonsynonymous[His1405Arg]
4222 .. 4222 G/A rs143939123 + CDS Nonsynonymous[Arg1407His]
4272 .. 4272 G/A rs115013641 + CDS Nonsynonymous[Asp1424Asn]
4359 .. 4359 C/T rs121908959 + CDS AA-STOP[Arg1453*]
4437 .. 4437 C/T rs144116735 + CDS Nonsynonymous[Arg1479Cys]
4470 .. 4470 C/A rs1802426 + CDS Nonsynonymous[Pro1490Thr]
4482 .. 4482 T/A rs11903223 + CDS Nonsynonymous[Cys1494Ser]
4574 .. 4574 T/G rs13429381 + 3'UTR
4642 .. 4642 C/G rs181677134 + 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