H-InvDB x AHG DB
Protein view
H-InvDB_9.0 released on May 27, 2015.
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H-Inv protein ID: HIP000204453 Last modified: 27-May-2015
Definition: Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
[Summery][Full]
[Protein Info][Member][Motif] 
provide location, ID and descriptions of functional motifs (InterPro)[Function] 
provide human-curated functional definition, similarity
category and related evidences;  Gene name; 
HUGO gene symbols; GO term; EC number; pathway information (KEGG)[PTM][Subcellular loc.] 
provide subcellular localization prediction by WolfPSORT, Target P, SOSUI, TMHMM and PTS1[Protein Structure][Evolutionary info.] 
provide orthologs relationships, phylogenic trees and sequence alignments[Polymorphism/repeat] 
provide polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Protein information
HIP ID HIP000204453
Length 2111
Codon Adaptation Index (CAI). 0.83
Database links RefSeq NA
UniProt NA
CCDS
Original transcript information
Representative H-Inv transcript ID Transcript view HIT000484991
H-Inv cluster ID Locus view HIX0002152
Predicted CDS 278..6613 ; 2111[aa] ; Orientation:+2 ;
Genomic location Chromosome 2
Location 2p13.2
CDS position 71680852-71913778
Strand +
Accession number EU515155.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center NBRC     Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (DYSF) ;   Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (DYSF) ;
Length of cDNA 6769[bp] (No. of exon:56)[A:1507 T:1321 G:1964 C:1977] ;
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291 ;
KEGG GENES KEGG GENES(8291) ;
GeneCard GeneCard DYSF ;
etc H-GOLD Human-Gene diversity Of Life-style related Diseases ;
Protein view


Coresponding transcript member (s)
No.1
H-Inv IDTranscript view HIT000484991
H-Inv cluster IDLocus view HIX0002152
Accession numberEU515155.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionDysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (O75923) [Identity/coverage = 98.532%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome2
Location2p13.2
CDS position71680852-71913778
Strand+
Gene structure56 exons

Motif information in predicted CDS
ORF

length(2112),orf(278:6613)
MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGF
EWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSAS
FNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDV
VAGGGQSRAETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDE
AEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQD
FQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFN
LFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRK
WLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLL
RPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRL
THNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFG
PCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSE
QKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGN
YGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDIS
HRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAG
CSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAAL
EQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRR
GANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQ
FAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFR
PSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMS
DNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIP
PERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGW
EYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGV
MDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDK
DSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAE
QPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGE
LLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIY
MVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSC
VIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQ
CTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPI
QEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLS
DFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQ
LAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYI
PCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENR
LLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTD
RVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRP
LYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWN
TRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNW
RFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFD
DFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWW
PCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPR
RPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPN
YAAMKLVKPFS*
a.a.
length
InterPro Name
length(85), motif(1:85) 85IPR000008C2 domain [Domain]
length(100), motif(1:100) 100IPR000008C2 domain [Domain]
length(123), motif(1:123) 123IPR000008C2 domain [Domain]
length(138), motif(1:138) 138IPR000008C2 domain [Domain]
length(84), motif(2:85) 84IPR000008C2 domain [Domain]
length(138), motif(238:375) 138IPR000008C2 domain [Domain]
length(134), motif(246:379) 134IPR000008C2 domain [Domain]
length(82), motif(252:333) 82IPR000008C2 domain [Domain]
length(97), motif(252:348) 97IPR000008C2 domain [Domain]
length(79), motif(254:332) 79IPR000008C2 domain [Domain]
length(72), motif(334:405) 72IPR012968FerIin domain [Domain]
length(14), motif(363:376) 14IPR000008C2 domain [Domain]
length(112), motif(408:519) 112IPR000008C2 domain [Domain]
length(113), motif(411:523) 113IPR000008C2 domain [Domain]
length(115), motif(411:525) 115IPR000008C2 domain [Domain]
length(96), motif(414:509) 96IPR000008C2 domain [Domain]
length(97), motif(414:510) 97IPR000008C2 domain [Domain]
length(66), motif(725:790) 66IPR012560Ferlin A-domain [Domain]
length(76), motif(817:892) 76IPR012561Ferlin B-domain [Domain]
length(60), motif(905:964) 60IPR006614Peroxin/Ferlin domain [Domain]
length(57), motif(977:1033) 57IPR006614Peroxin/Ferlin domain [Domain]
length(96), motif(980:1075) 96IPR010482Peroxin/Dysferlin domain [Domain]
length(39), motif(1042:1080) 39IPR006614Peroxin/Ferlin domain [Domain]
length(34), motif(1099:1132) 34IPR006614Peroxin/Ferlin domain [Domain]
length(144), motif(1167:1310) 144IPR000008C2 domain [Domain]
length(106), motif(1170:1275) 106IPR000008C2 domain [Domain]
length(126), motif(1181:1306) 126IPR000008C2 domain [Domain]
length(109), motif(1184:1292) 109IPR000008C2 domain [Domain]
length(90), motif(1185:1274) 90IPR000008C2 domain [Domain]
length(120), motif(1344:1463) 120IPR000008C2 domain [Domain]
length(88), motif(1367:1454) 88IPR000008C2 domain [Domain]
length(100), motif(1369:1468) 100IPR000008C2 domain [Domain]
length(82), motif(1371:1452) 82IPR000008C2 domain [Domain]
length(120), motif(1594:1713) 120IPR000008C2 domain [Domain]
length(99), motif(1596:1694) 99IPR000008C2 domain [Domain]
length(106), motif(1602:1707) 106IPR000008C2 domain [Domain]
length(100), motif(1610:1709) 100IPR000008C2 domain [Domain]
length(82), motif(1612:1693) 82IPR000008C2 domain [Domain]
length(25), motif(1797:1821) 25IPR000008C2 domain [Domain]
length(158), motif(1811:1968) 158IPR000008C2 domain [Domain]
length(197), motif(1827:2023) 197IPR000008C2 domain [Domain]
length(130), motif(1843:1972) 130IPR000008C2 domain [Domain]
length(24), motif(1933:1956) 24IPR000008C2 domain [Domain]

Protein function information
H-Inv protein ID HIP000204453
Representative H-Inv transcript ID Transcript view HIT000484991
H-Inv cluster ID Locus view HIX0002152
Definition Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Similarity category Help Identical to known human protein(Category I).
Identical to known human protein (O75923) [Identity/coverage = 98.532%/100.0%] to Homo sapiens (Human). protein.
Gene family/group H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
EC number NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer No. of interaction 8
Interaction partner(s) HIP000024824; HIP000027467; HIP000038431; HIP000052053; HIP000053772; HIP000084093; HIP000096938; HIP000252787;
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
UniProt
CCDS
Gene symbol/name HGNC symbol DYSF
HGNC aliases "limb girdle muscular dystrophy 2B (autosomal recessive)";
HGNC name dysferlin;
Related H-InvDB links G-integraG-integra ; PPI viewer PPI view ; TACT TACT ;

Glycosylation
GPDB (GlycoProtDB)
GPDB
ID NA
Protein name NA
Organism NA
Length(aa) NA

Subcellular localization information
WoLF PSORT cytosol;
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
241 352 1n05A 1e-13 12.8 109/142 b.43.5.1
411 516 1djgA2 7e-09 17.0 91/131 b.7.1.1
913 1052 1uypA2 2e-10 12.5 136/294 b.67.2.3
1182 1309 1wfjA 3e-19 21.2 118/136 b.7.1.2
1611 1710 1gmiA 7e-16 12.0 97/135 b.7.1.1
1844 1965 1a25A 1e-07 18.9 96/132 b.7.1.2
Related H-InvDB links GTOP GTOP

Translation polymorphism (SNP) and microsatellite (STR) information

Single Nucleotide Polymorphism (SNP) and indel VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
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]
736..736 C/T rs72898896 + CDS Synonymous[Gly153Gly]
833..833 G/A rs200970855 + CDS Nonsynonymous[Gly186Arg]
839..839 G/A rs151054827 + CDS Nonsynonymous[Glu188Lys]
847..847 C/T rs201335551 + CDS Synonymous[Asp190Asp]
862..862 A/G rs141002437 + CDS Synonymous[Gly195Gly]
866..866 A/C rs142265349 + CDS Nonsynonymous[Thr197Pro]
879..879 C/A rs34999029 - CDS Nonsynonymous[Ala201Glu]
902..902 G/A rs143562525 + CDS Nonsynonymous[Gly209Arg]
910..910 G/T rs185711021 + CDS Synonymous[Pro211Pro]
922..922 C/T rs201607397 + CDS Synonymous[Thr215Thr]
935..935 C/G rs13407355 + CDS Nonsynonymous[Leu220Val]
940..940 T/C rs35392229 - CDS Synonymous[Pro221Pro]
951..951 C/A rs201980470 + CDS Nonsynonymous[Pro225Gln]
956..956 C/A rs146382803 + CDS Nonsynonymous[His227Asn]
992..992 A/G rs150029218 + CDS Nonsynonymous[Thr239Ala]
1008..1008 T/C rs148739795 + CDS Nonsynonymous[Leu244Pro]
1020..1020 C/T rs147876220 + CDS Nonsynonymous[Pro248Leu]
1040..1040 G/A rs145360241 + CDS Nonsynonymous[Val255Ile]
1046..1046 G/A rs150345121 + CDS Nonsynonymous[Val257Met]
1048..1048 G/A rs201797348 + CDS Synonymous[Val257Val]
1051..1051 C/T rs138054675 + CDS Synonymous[Ile258Ile]
1068..1068 C/T rs143053635 + CDS Nonsynonymous[Pro264Leu]
1071..1071 G/A rs141497053 + CDS Nonsynonymous[Gly265Glu]
1072..1072 G/A rs138466537 + CDS Synonymous[Gly265Gly]
1077..1077 A/C rs150917600 + CDS Nonsynonymous[Asn267Thr]
1127..1127 C/T rs149827237 + CDS Nonsynonymous[Arg284Trp]
1128..1128 G/A rs140002194 + CDS Nonsynonymous[Arg284Gln]
1159..1159 T/G rs201550600 + CDS Nonsynonymous[Asn294Lys]
1210..1210 G/T rs111581279 + CDS Nonsynonymous[Glu311Asp]
1219..1219 T/C rs147675576 + CDS Synonymous[Phe314Phe]
1252..1252 A/T rs112007817 + CDS Synonymous[Thr325Thr]
1264..1264 C/T rs140809078 + CDS Synonymous[Leu329Leu]
1265..1265 G/A/T rs121908963 + CDS
1274..1274 C/T rs184771575 + CDS Nonsynonymous[Arg333Trp]
1282..1282 C/T rs146687581 + CDS Synonymous[Asp335Asp]
1312..1312 C/T rs36122356 - CDS Synonymous[His345His]
1339..1339 C/G rs143370670 + CDS Synonymous[Leu354Leu]
1419..1419 C/T rs115279465 + CDS Nonsynonymous[Ala381Val]
1423..1423 T/G rs199955501 + CDS Synonymous[Pro382Pro]
1490..1490 G/C rs150724610 + CDS Nonsynonymous[Val405Leu]
1523..1523 G/A rs200281572 + CDS Nonsynonymous[Val416Ile]
1555..1555 C/T rs147244033 + CDS Synonymous[Asp426Asp]
1562..1562 G/A rs144202114 + CDS Nonsynonymous[Val429Met]
1585..1585 C/T rs148697028 + CDS Synonymous[Ile436Ile]
1603..1603 C/A rs143355224 + CDS Nonsynonymous[Asn442Lys]
1644..1644 C/T rs146588926 + CDS Nonsynonymous[Ala456Val]
1645..1645 G/A/C rs140667960 + CDS
1681..1681 G/A/T rs150093305 + CDS
1721..1721 A/G rs141818764 + CDS Nonsynonymous[Met482Val]
1723..1723 G/A rs146064054 + CDS Nonsynonymous[Met482Ile]
1732..1732 C/T rs200803090 + CDS Synonymous[Ser485Ser]
1738..1738 C/T rs202044973 + CDS Synonymous[Cys487Cys]
1739..1739 G/A rs61740288 + CDS Nonsynonymous[Glu488Lys]
1755..1755 G/A rs199879861 + CDS Nonsynonymous[Arg493His]
1768..1768 G/A rs141400095 + CDS AA-STOP[Trp497*]
1772..1772 C/T rs185119682 + CDS Nonsynonymous[Arg499Cys]
1792..1792 C/T rs34387018 - CDS Synonymous[Ile505Ile]
1818..1818 C/T rs139258703 + CDS Nonsynonymous[Ser514Leu]
1878..1878 C/T rs144931729 + CDS Nonsynonymous[Ser534Leu]
1882..1882 A/T rs149066183 + CDS Nonsynonymous[Lys535Asn]
1925..1925 G/A rs121908962 + CDS Nonsynonymous[Gly550Arg]
1942..1942 C/T rs139495331 + CDS Synonymous[Asn555Asn]
1984..1984 C/A rs180970066 + CDS Synonymous[Pro569Pro]
1990..1990 A/G rs147101870 + CDS Synonymous[Thr571Thr]
2000..2000 A/C rs201443353 + CDS Nonsynonymous[Thr575Pro]
2009..2009 G/A rs200236226 + CDS Nonsynonymous[Gly578Arg]
2037..2037 T/C rs200916654 + CDS Nonsynonymous[Leu587Pro]
2092..2092 C/T rs199554105 + CDS Synonymous[Asp605Asp]
2100..2100 C/T rs201515915 + CDS Nonsynonymous[Ala608Val]
2101..2101 G/A rs35984374 - CDS Synonymous[Ala608Ala]
2114..2114 C/T rs149386446 + CDS Nonsynonymous[Arg613Trp]
2125..2125 G/T rs144675204 + CDS Nonsynonymous[Lys616Asn]
2140^2141 -/C rs34644852 + CDS
2157..2157 C/T rs146261069 + CDS Nonsynonymous[Ala627Val]
2183..2183 C/T rs121908953 + CDS AA-STOP[Gln636*]
2197..2197 T/C rs2303596 + CDS Synonymous[Asp640Asp]
2222..2222 G/A rs201049092 + CDS Nonsynonymous[Gly649Arg]
2230..2230 C/T rs35721373 - CDS Synonymous[Tyr651Tyr]
2236..2236 C/G rs141080184 + CDS Nonsynonymous[Asn653Lys]
2239..2239 G/A rs147738382 + CDS Synonymous[Lys654Lys]
2243..2243 G/A/T rs121908960 + CDS
2247..2247 T/C rs141867897 + CDS Nonsynonymous[Met657Thr]
2260..2260 G/A rs115849497 + CDS Synonymous[Pro661Pro]
2286..2286 G/A rs150417363 + CDS Nonsynonymous[Arg670His]
2300..2300 G/A rs200195517 + CDS Nonsynonymous[Gly675Arg]
2332..2332 C/T rs199565036 + CDS Synonymous[Asn685Asn]
2333..2333 G/A rs200611218 + CDS Nonsynonymous[Val686Met]
2336..2336 A/G rs139754493 + CDS Nonsynonymous[Lys687Glu]
2350..2350 G/A rs138111360 + CDS Synonymous[Val691Val]
2361..2361 A/C rs200380100 + CDS Nonsynonymous[Tyr695Ser]
2375..2375 A/G rs113450735 + CDS Nonsynonymous[Ser700Gly]
2404..2404 G/T rs200541431 + CDS Synonymous[Leu709Leu]
2420..2420 C/T rs148652047 + CDS Nonsynonymous[Arg715Trp]
2423..2423 C/G rs74423119 + CDS Nonsynonymous[Leu716Val]
2463..2463 C/T rs145007061 + CDS Nonsynonymous[Ala729Val]
2464..2464 G/A rs201239189 + CDS Synonymous[Ala729Ala]
2467..2467 G/A rs149864346 + CDS Synonymous[Gln730Gln]
2483..2483 G/A rs182450244 + CDS Nonsynonymous[Val736Met]
2532..2532 G/A rs143304754 + CDS Nonsynonymous[Ser752Asn]
2542..2542 G/A rs145868833 + CDS Synonymous[Leu755Leu]
2573..2573 C/A rs202123283 + CDS Nonsynonymous[His766Asn]
2581..2581 C/T rs143773517 + CDS Synonymous[Asp768Asp]
2593..2593 C/T rs200188905 + CDS Synonymous[Tyr772Tyr]
2600..2600 C/T rs181551438 + CDS Nonsynonymous[Arg775Cys]
2632..2632 T/C rs141314294 + CDS Synonymous[Ala785Ala]
2650..2650 C/T rs116204385 + CDS Synonymous[Leu791Leu]
2651..2651 G/A rs138654170 + CDS Nonsynonymous[Gly792Ser]
2678..2678 G/C rs147412635 + CDS Nonsynonymous[Glu801Gln]
2702..2702 C/T rs143568054 + CDS Nonsynonymous[Arg809Cys]
2703..2703 G/A rs185891286 + CDS Nonsynonymous[Arg809His]
2718..2718 C/T rs147139414 + CDS Nonsynonymous[Ala814Val]
2742..2742 C/G rs121908956 + CDS Nonsynonymous[Pro822Arg]
2743..2743 G/A rs139422989 + CDS Synonymous[Pro822Pro]
2793..2793 G/A rs35297901 + CDS Nonsynonymous[Arg839Gln]
2798..2798 C/A rs146819460 + CDS Nonsynonymous[Pro841Thr]
2800..2800 C/T rs143667543 + CDS Synonymous[Pro841Pro]
2864..2864 C/T rs199543257 + CDS AA-STOP[Gln863*]
2870..2870 A/G rs34671418 - CDS Nonsynonymous[Ile865Val]
2887..2887 G/T rs200494473 + CDS Synonymous[Pro870Pro]
2897..2897 G/T rs201754947 + CDS Nonsynonymous[Val874Leu]
2906..2906 G/A rs143632564 + CDS Nonsynonymous[Ala877Thr]
2909..2909 C/T rs200487610 + CDS Nonsynonymous[Arg878Trp]
2938..2938 G/A rs191337920 + CDS Synonymous[Leu887Leu]
2953..2953 T/A rs2288355 - CDS Synonymous[Ser892Ser]
2958..2958 A/C rs35884879 - CDS Nonsynonymous[Asp894Ala]
2959..2959 T/G rs146153109 + CDS Nonsynonymous[Asp894Glu]
2984..2984 G/A rs200049922 + CDS Nonsynonymous[Glu903Lys]
3016..3016 T/C rs149979662 + CDS Synonymous[Tyr913Tyr]
3038..3038 C/T rs141264366 + CDS Nonsynonymous[Leu921Phe]
3041..3041 G/A rs201622087 + CDS Nonsynonymous[Val922Ile]
3045..3045 G/A rs201178528 + CDS Nonsynonymous[Gly923Glu]
3073..3073 C/T rs200439327 + CDS Synonymous[Tyr932Tyr]
3133..3133 G/A rs148902254 + CDS Synonymous[Ser952Ser]
3139..3139 C/T rs138212696 + CDS Synonymous[Gly954Gly]
3163..3163 C/T rs146006518 + CDS Synonymous[Phe962Phe]
3171..3171 C/T rs150717638 + CDS Nonsynonymous[Pro965Leu]
3172..3172 G/A rs34836829 - CDS Synonymous[Pro965Pro]
3180..3180 C/T rs201209494 + CDS Nonsynonymous[Thr968Ile]
3199..3199 C/T rs143775913 + CDS Synonymous[Asp974Asp]
3244..3244 C/G rs148531939 + CDS Synonymous[Thr989Thr]
3245..3245 C/T rs202218890 + CDS Nonsynonymous[Arg990Trp]
3253..3253 C/T rs192717273 + CDS Synonymous[Pro992Pro]
3254..3254 G/A rs151064013 + CDS Nonsynonymous[Gly993Arg]
3272..3272 A/T rs144636654 + CDS Nonsynonymous[Met999Leu]
3290..3290 G/A rs200422222 + CDS Nonsynonymous[Asp1005Asn]
3298..3298 C/T rs142404822 + CDS Synonymous[Asn1007Asn]
3318..3318 A/C rs34061568 - CDS Nonsynonymous[Lys1014Thr]
3367..3367 G/T rs28937581 + CDS Nonsynonymous[Trp1030Cys]
3392..3392 G/A rs200943384 + CDS Nonsynonymous[Asp1039Asn]
3403..3403 C/G rs36077172 - CDS Synonymous[Gly1042Gly]
3427..3427 C/T rs143475751 + CDS Synonymous[Pro1050Pro]
3435..3435 G/A rs34211915 - CDS Nonsynonymous[Arg1053Gln]
3450..3450 G/C rs142289638 + CDS Nonsynonymous[Trp1058Ser]
3483..3483 G/A rs150877497 + CDS Nonsynonymous[Arg1069Gln]
3486..3486 G/A rs149617331 + CDS Nonsynonymous[Arg1070Gln]
3487..3487 G/A rs200311551 + CDS Synonymous[Arg1070Arg]
3491..3491 C/T rs144598063 + CDS Nonsynonymous[Arg1072Cys]
3492^3493 -/A rs34551069 + CDS
3507..3507 G/A rs121908958 + CDS Nonsynonymous[Arg1077His]
3528..3528 T/G rs199679773 + CDS Nonsynonymous[Met1084Arg]
3545..3545 C/T rs147886481 + CDS Nonsynonymous[His1090Tyr]
3551..3551 C/G rs202034789 + CDS Nonsynonymous[Gln1092Glu]
3555..3555 C/T rs142193283 + CDS Nonsynonymous[Ala1093Val]
3561..3561 C/T rs200637035 + CDS Nonsynonymous[Ala1095Val]
3564..3564 A/G rs200332119 - CDS Nonsynonymous[Glu1096Gly]
3583..3583 C/T rs150355624 + CDS Synonymous[Tyr1102Tyr]
3584..3584 G/C rs34660230 - CDS Nonsynonymous[Ala1103Pro]
3613..3613 C/T rs144936357 + CDS Synonymous[Leu1112Leu]
3614..3614 G/C rs144599077 + CDS Nonsynonymous[Glu1113Gln]
3619..3619 C/T rs201477760 + CDS Synonymous[Tyr1114Tyr]
3648..3648 G/C rs111488441 + CDS Nonsynonymous[Arg1124Pro]
3653..3653 C/T rs141536854 + CDS Nonsynonymous[Arg1126Cys]
3656..3656 C/T rs148171293 + CDS Nonsynonymous[Arg1127Cys]
3657..3657 G/A rs59915619 + CDS Nonsynonymous[Arg1127His]
3659..3659 C/T rs147483765 + CDS Nonsynonymous[Arg1128Cys]
3682..3682 G/A rs149986783 + CDS Synonymous[Thr1135Thr]
3684..3684 G/A rs148489131 + CDS Nonsynonymous[Gly1136Glu]
3713..3713 G/A rs200334333 + CDS Nonsynonymous[Ala1146Thr]
3722..3722 G/A rs202000264 + CDS Nonsynonymous[Gly1149Ser]
3724..3724 C/T rs146498307 + CDS Synonymous[Gly1149Gly]
3725..3725 G/A rs144634077 + CDS Nonsynonymous[Val1150Met]
3758..3758 G/A rs148925399 + CDS Nonsynonymous[Val1161Ile]
3792..3792 C/T rs140058659 + CDS Nonsynonymous[Thr1172Met]
3817..3817 G/A rs138317526 + CDS Synonymous[Gly1180Gly]
3821..3821 C/T rs200719174 + CDS Nonsynonymous[Arg1182Cys]
3857..3857 G/A rs139194093 + CDS Nonsynonymous[Asp1194Asn]
3868..3868 G/A rs201319864 + CDS Synonymous[Ala1197Ala]
3904..3904 C/T rs79899601 + CDS Synonymous[Ile1209Ile]
3917..3917 C/T rs150623923 + CDS Nonsynonymous[His1214Tyr]
3923..3923 A/G rs139194366 + CDS Nonsynonymous[Ser1216Gly]
3976..3976 G/A rs139897804 + CDS Synonymous[Thr1233Thr]
3988..3988 C/T rs143393575 + CDS Synonymous[Tyr1237Tyr]
3994..3994 C/G/T rs148858485 + CDS
4011..4011 C/T rs150942486 + CDS Nonsynonymous[Pro1245Leu]
4012..4012 G/A rs139364929 + CDS Synonymous[Pro1245Pro]
4033..4033 G/A rs150444588 + CDS Synonymous[Pro1252Pro]
4062..4062 A/G rs79608837 + CDS Nonsynonymous[His1262Arg]
4072..4072 T/C rs141720146 + CDS Synonymous[Tyr1265Tyr]
4095..4095 G/A rs2303603 + CDS Nonsynonymous[Arg1273His]
4100..4100 A/G rs200942650 + CDS Nonsynonymous[Ile1275Val]
4130..4130 C/T rs146970014 + CDS Nonsynonymous[Arg1285Trp]
4141..4141 G/C rs141420226 + CDS Nonsynonymous[Trp1288Cys]
4152..4152 C/T rs202013788 + CDS Nonsynonymous[Thr1292Met]
4158..4158 G/C rs200330006 + CDS Nonsynonymous[Gly1294Ala]
4168..4168 G/A rs139983909 + CDS Synonymous[Pro1297Pro]
4223..4223 C/T rs202061751 + CDS Nonsynonymous[His1316Tyr]
4262..4262 A/G rs121908954 + CDS Nonsynonymous[Ile1329Val]
4270..4270 T/A rs201998440 + CDS Nonsynonymous[Asp1331Glu]
4284..4284 C/A rs116426399 + CDS Nonsynonymous[Thr1336Lys]
4286..4286 G/A rs149023297 + CDS Nonsynonymous[Asp1337Asn]
4321..4321 C/T rs201966225 + CDS Synonymous[Asn1348Asn]
4337..4337 C/G rs147950418 + CDS Nonsynonymous[Gln1354Glu]
4342..4342 C/T rs11558179 - CDS Synonymous[Asn1355Asn]
4343..4343 A/G rs145401010 + CDS Nonsynonymous[Ile1356Val]
4353..4353 C/T rs201476613 + CDS Nonsynonymous[Ala1359Val]
4362..4362 G/T rs61742872 + CDS Nonsynonymous[Arg1362Leu]
4366..4366 C/T rs138751942 + CDS Synonymous[Thr1363Thr]
4370..4370 A/G rs146242836 + CDS Nonsynonymous[Ile1365Val]
4378..4378 C/A rs2303606 + CDS Synonymous[Ile1367Ile]
4394..4394 C/T rs199870606 + CDS Nonsynonymous[Arg1373Trp]
4422..4422 A/G rs139529811 + CDS Nonsynonymous[Asn1382Ser]
4438..4438 C/T rs2303607 + CDS Synonymous[Ser1387Ser]
4459..4459 C/T rs145412880 + CDS Synonymous[Gly1394Gly]
4464..4464 C/T rs149182447 + CDS Nonsynonymous[Thr1396Met]
4568..4568 C/G/T rs151268930 + CDS
4569..4569 C/G rs138268837 + CDS Nonsynonymous[Pro1431Arg]
4570..4570 C/T rs142769942 + CDS Synonymous[Pro1431Pro]
4595..4595 C/T rs138097846 + CDS Nonsynonymous[Arg1440Cys]
4657..4657 G/A rs144072850 + CDS Synonymous[Leu1460Leu]
4665..4665 C/A rs142776870 + CDS Nonsynonymous[Pro1463His]
4671..4671 C/T rs139411595 + CDS Nonsynonymous[Ser1465Leu]
4688..4688 C/T rs151109021 + CDS Nonsynonymous[Pro1471Ser]
4693..4693 G/A rs76576806 + CDS Synonymous[Gln1472Gln]
4705..4705 C/T rs61746816 + CDS Synonymous[Asp1476Asp]
4744..4744 C/T rs145690047 + CDS Synonymous[Ile1489Ile]
4746..4746 A/G rs61738567 + CDS Nonsynonymous[Asp1490Gly]
4795..4795 C/T rs148055736 + CDS Synonymous[Ile1506Ile]
4850..4850 T/C rs150139276 + CDS Nonsynonymous[Tyr1525His]
4861..4861 G/T rs182185801 + CDS Nonsynonymous[Lys1528Asn]
4872..4872 C/A rs200809348 + CDS Nonsynonymous[Thr1532Asn]
4874..4874 C/T rs7573406 + CDS Synonymous[Leu1533Leu]
4879..4879 G/A rs199861501 + CDS Synonymous[Lys1534Lys]
4880..4880 G/A rs143895253 + CDS Nonsynonymous[Val1535Ile]
4882..4882 C/G rs142483266 + CDS Synonymous[Val1535Val]
4926..4926 C/A rs201226634 + CDS Nonsynonymous[Ser1550Tyr]
4947..4947 A/C rs76086153 + CDS Nonsynonymous[Lys1557Thr]
4956..4956 G/A rs191383034 + CDS Nonsynonymous[Arg1560Gln]
4965..4965 C/T rs144422408 + CDS Nonsynonymous[Thr1563Met]
5033..5033 C/T rs149768871 + CDS Nonsynonymous[Pro1586Ser]
5045..5045 G/A rs146213322 + CDS Nonsynonymous[Ala1590Thr]
5084..5084 G/A rs143163327 + CDS Nonsynonymous[Ala1603Thr]
5101..5101 G/A rs62145939 + CDS Synonymous[Glu1608Glu]
5112..5112 G/A rs185596534 + CDS Nonsynonymous[Arg1612His]
5164..5164 G/T rs141704244 + CDS Nonsynonymous[Lys1629Asn]
5189..5189 A/G rs138357301 + CDS Nonsynonymous[Ile1638Val]
5190..5190 T/C rs146384562 + CDS Nonsynonymous[Ile1638Thr]
5227..5227 C/A rs113744167 + CDS Synonymous[Ile1650Ile]
5235..5235 C/T rs144383140 + CDS Nonsynonymous[Thr1653Met]
5236..5236 G/T rs142301132 + CDS Synonymous[Thr1653Thr]
5246..5246 G/A rs147056383 + CDS Nonsynonymous[Val1657Ile]
5263..5263 C/T rs151276652 + CDS Synonymous[Phe1662Phe]
5275..5275 C/T rs149989207 + CDS Synonymous[Cys1666Cys]
5311..5311 C/A rs141476432 + CDS Synonymous[Leu1678Leu]
5347..5347 C/T rs149087116 + CDS Synonymous[Ile1690Ile]
5355..5355 C/T rs143059463 + CDS Nonsynonymous[Thr1693Met]
5396..5396 G/T rs141137410 + CDS Nonsynonymous[Ala1707Ser]
5400..5400 G/A rs138472236 + CDS Nonsynonymous[Arg1708His]
5433..5433 G/C rs146153532 + CDS Nonsynonymous[Gly1719Ala]
5469..5469 A/T rs149408006 + CDS Nonsynonymous[Gln1731Leu]
5474..5474 C/G rs11558178 - CDS Nonsynonymous[Leu1733Val]
5489..5489 C/G rs199827126 + CDS Nonsynonymous[Gln1738Glu]
5519..5519 C/T rs148541407 + CDS Nonsynonymous[Arg1748Trp]
5529..5529 G/A rs147678255 + CDS Nonsynonymous[Arg1751His]
5571..5571 A/G rs121908961 + CDS Nonsynonymous[Glu1765Gly]
5586..5586 C/A rs145272777 + CDS Nonsynonymous[Pro1770Gln]
5614..5614 G/A rs140812535 + CDS Synonymous[Glu1779Glu]
5673..5673 G/A rs148860301 + CDS Nonsynonymous[Arg1799Gln]
5677..5677 C/T rs137855767 + CDS Synonymous[Pro1800Pro]
5686..5686 C/T rs200879908 + CDS Synonymous[Ser1803Ser]
5731..5731 C/T rs145143725 + CDS Synonymous[Val1818Val]
5741..5741 C/T rs145832952 + CDS Nonsynonymous[Pro1822Ser]
5751..5751 T/C rs148382335 + CDS Nonsynonymous[Leu1825Pro]
5756..5756 C/T rs139879284 + CDS Nonsynonymous[Arg1827Trp]
5862..5862 C/T rs199649417 + CDS Nonsynonymous[Thr1862Met]
5867..5867 G/A rs201592500 + CDS Nonsynonymous[Glu1864Lys]
5883..5883 T/C rs191052325 + CDS Nonsynonymous[Ile1869Thr]
5940..5940 A/G rs199601326 + CDS Nonsynonymous[His1888Arg]
5946..5946 G/A rs143939123 + CDS Nonsynonymous[Arg1890His]
5996..5996 G/A rs115013641 + CDS Nonsynonymous[Asp1907Asn]
6083..6083 C/T rs121908959 + CDS AA-STOP[Arg1936*]
6161..6161 C/T rs144116735 + CDS Nonsynonymous[Arg1962Cys]
6198..6198 C/G rs142160134 + CDS Nonsynonymous[Ser1974Cys]
6199..6199 C/G rs140341988 + CDS Synonymous[Ser1974Ser]
6229..6229 A/C/T rs17718530 + CDS
6252..6252 A/G rs11558176 - CDS Nonsynonymous[Glu1992Gly]
6288..6288 C/T rs201784424 + CDS Nonsynonymous[Ala2004Val]
6316..6316 G/A rs138936064 + CDS Synonymous[Ala2013Ala]
6335..6335 T/C rs188223743 + CDS Synonymous[Leu2020Leu]
6353..6353 A/C rs201890095 + CDS Nonsynonymous[Ser2026Arg]
6368..6368 C/T rs149357145 + CDS Nonsynonymous[Arg2031Trp]
6369..6369 G/A rs115407852 + CDS Nonsynonymous[Arg2031Gln]
6386..6386 C/T rs200921075 + CDS Nonsynonymous[Arg2037Trp]
6407..6407 C/A rs11558177 - CDS Nonsynonymous[Pro2044Thr]
6427..6427 G/A rs143762717 + CDS Synonymous[Arg2050Arg]
6433..6433 C/T rs147263499 + CDS Synonymous[Pro2052Pro]
6442..6442 C/A rs200994941 + CDS Synonymous[Ser2055Ser]
6491..6491 C/T rs200990851 + CDS Nonsynonymous[Arg2072Trp]
6494..6494 C/T rs121908955 + CDS Nonsynonymous[Arg2073Cys]
6500..6500 C/T rs185617318 + CDS Nonsynonymous[Arg2075Trp]
6509..6509 A/G rs150834671 + CDS Nonsynonymous[Ile2078Val]
6536..6536 C/T rs201725164 + CDS Synonymous[Leu2087Leu]
6573..6573 C/T rs149732545 + CDS Nonsynonymous[Pro2099Leu]
6574..6574 G/A rs139267208 + CDS Synonymous[Pro2099Pro]
Microsatellite (Short Tandem Repeat, STR)
LocationVariationStrand
No data available
Related H-InvDB links
VaryGeneVaryGene ;