| Reports |
| substitution |
| cSNPs | 6 |
| Insertion | 29 |
| Deletion | 33 |
| SNPs |
+1kb
38961190(c.-533A>G),
38961211(c.-554C>G),
38961217(c.-560T>A),
38961279(c.-622T>A),
38961283(c.-626A>C),
38961328(c.-671A>G),
38961370(c.-713A>T),
38961396(c.-739G>A),
38961401(c.-744T>C),
38961440(c.-783A>G),
38961484(c.-827G>A),
38961491(c.-834C>T),
38961516(c.-859A>G),
38961517(c.-860C>T),
38961528(c.-871G>T),
38961668(c.-1011A>G),
38961744(c.-1087A>T),
38961754(c.-1097G>A),
38961762(c.-1105A>T),
38961815(c.-1158C>A),
38961826(c.-1169C>G),
38961876(c.-1219C>G),
38961886(c.-1229T>C),
38961924(c.-1267A>G),
38961950(c.-1293G>A),
38961982(c.-1325C>G),
38961987(c.-1330G>A),
38962059(c.-1402T>C),
38962092(c.-1435A>C),
38962129(c.-1472C>T),
38962180(c.-1523T>G),
38962190(c.-1533A>G),
38962257(c.-1600T>A),
38962281(c.-1624C>A),
38962296(c.-1639T>C),
38962317(c.-1660T>C),
38962408(c.-1751C>T),
38962410(c.-1753G>T),
38962443(c.-1786C>G),
38962491(c.-1834A>C),
38962512(c.-1855C>T),
38962520(c.-1863T>C),
38962525(c.-1868T>A),
38962563(c.-1906G>A),
38962565(c.-1908T>A),
38962585(c.-1928A>G),
38962594(c.-1937T>A),
38962607(c.-1950G>T),
38962610(c.-1953C>T),
38962633(c.-1976A>G),
38962742(c.-2085T>A),
38962805(c.-2148T>C),
38962809(c.-2152C>A),
38962994(c.-2337T>C),
38963009(c.-2352A>G),
38963098(c.-2441A>C),
38963143(c.-2486G>T),
38963199(c.-2542A>G),
38963243(c.-2586G>A),
38963244(c.-2587G>A),
38963655(c.-2998G>C),
38963711(c.-3054T>G),
38963812(c.-3155C>A),
38963840(c.-3183G>A),
38963890(c.-3233T>C),
38964051(c.-3394A>G),
38964128(c.-3471T>C),
38964166(c.-3509A>G),
38964169(c.-3512T>C),
38964174(c.-3517T>C),
38964245(c.-3588T>C),
38964275(c.-3618T>G),
38964291(c.-3634G>A),
38964376(c.-3719A>C),
38964380(c.-3723A>G),
38964396(c.-3739T>C),
38964408(c.-3751G>A),
38964446(c.-3789A>G),
38964456(c.-3799A>G),
38964469(c.-3812A>C),
38964521(c.-3864C>G),
38964727(c.-4070A>G),
38964763(c.-4106C>G),
38965061(c.-4404C>G),
38965088(c.-4431A>G),
38965134(c.-4477C>G),
38965150(c.-4493A>G),
38965200(c.-4543G>A),
38965246(c.-4589G>A),
38965449(c.-4792G>A),
38965760(c.-5103C>G),
38965769(c.-5112T>G),
38965776(c.-5119C>G),
38965782(c.-5125G>A),
38965811(c.-5154A>G),
38965836(c.-5179A>G),
5'UTR
CDS
3'UTR
INTRON
38933044(c.1092-128G>A),
38933070(c.1092-154C>T),
38933096(c.1092-180T>C),
38933135(c.1092-219G>C),
38933196(c.1092-280C>T),
38933199(c.1092-283G>T),
38933218(c.1092-302G>C),
38933270(c.1092-354T>A),
38933475(c.1092-559A>G),
38933544(c.1092-628C>T),
38933811(c.1092-895T>G),
38934040(c.1091+698T>A),
38935158(c.1022-351T>C),
38935333(c.1022-526C>G),
38935408(c.1022-601C>G),
38935418(c.1022-611G>C),
38935562(c.1022-755A>T),
38935574(c.1022-767G>A),
38935585(c.1022-778T>A),
38935678(c.1022-871A>G),
38935914(c.1022-1107G>A),
38935918(c.1022-1111A>T),
38935926(c.1022-1119T>C),
38935927(c.1022-1120A>G),
38936329(c.1021+913C>A),
38936836(c.1021+406A>G),
38936982(c.1021+260G>A),
38937481(c.910-128A>G),
38937721(c.909+26A>C),
38938315(c.817-476T>C),
38938459(c.817-620C>T),
38938552(c.817-713G>A),
38938559(c.817-720T>C),
38938689(c.817-850T>C),
38938769(c.817-930T>A),
38938771(c.817-932T>A),
38938794(c.817-955G>T),
38938921(c.816+954C>T),
38939183(c.816+692A>G),
38939664(c.816+211C>T),
38940049(c.719-77T>G),
38940105(c.719-133A>T),
38940106(c.719-134G>T),
38940321(c.719-349G>T),
38940388(c.719-416C>T),
38940610(c.719-638T>C),
38940614(c.719-642A>G),
38940623(c.719-651T>C),
38940674(c.719-702C>T),
38940675(c.719-703G>A),
38940681(c.719-709T>C),
38940727(c.719-755T>C),
38941122(c.719-1150A>G),
38941137(c.719-1165G>A),
38941139(c.719-1167A>G),
38941156(c.719-1184G>A),
38941262(c.719-1290A>G),
38941372(c.719-1400T>C),
38941418(c.719-1446T>C),
38941437(c.719-1465T>A),
38941464(c.719-1492C>A),
38941474(c.719-1502A>G),
38941478(c.719-1506A>G),
38941511(c.719-1539A>G),
38941746(c.718+1313C>T),
38941832(c.718+1227T>A),
38941911(c.718+1148A>G),
38941925(c.718+1134G>A),
38942202(c.718+857C>T),
38942380(c.718+679G>A),
38942383(c.718+676T>C),
38942436(c.718+623T>C),
38942581(c.718+478C>T),
38942590(c.718+469C>T),
38942649(c.718+410G>A),
38942655(c.718+404G>A),
38942782(c.718+277T>C),
38942816(c.718+243T>C),
38942842(c.718+217C>T),
38942884(c.718+175G>C),
38942887(c.718+172G>T),
38942888(c.718+171T>C),
38943203(c.611-37T>A),
38943205(c.611-39A>G),
38943226(c.611-60T>A),
38943439(c.611-273A>C),
38943488(c.611-322T>C),
38943671(c.611-505A>T),
38943797(c.611-631A>C),
38944809(c.456-155G>A),
38944891(c.456-237C>T),
38945130(c.456-476A>G),
38945226(c.456-572A>G),
38945895(c.456-1241C>T),
38945917(c.456-1263T>C),
38945963(c.456-1309G>A),
38946185(c.456-1531T>G),
38946444(c.456-1790T>A),
38946672(c.456-2018G>A),
38946673(c.456-2019G>A),
38946714(c.456-2060T>C),
38946842(c.456-2188C>T),
38946881(c.456-2227G>T),
38946883(c.456-2229A>G),
38946976(c.456-2322A>G),
38946993(c.456-2339C>G),
38947051(c.456-2397G>T),
38947122(c.456-2468A>G),
38947123(c.456-2469C>T),
38947299(c.456-2645G>C),
38947446(c.456-2792C>T),
38947727(c.456-3073A>T),
38947738(c.456-3084T>A),
38947744(c.456-3090C>A),
38947770(c.456-3116A>G),
38947809(c.456-3155G>A),
38948035(c.456-3381T>C),
38948085(c.456-3431A>G),
38948154(c.456-3500T>C),
38948272(c.456-3618C>A),
38948299(c.456-3645G>A),
38948503(c.456-3849T>G),
38948513(c.456-3859G>A),
38948531(c.456-3877T>C),
38948695(c.456-4041T>A),
38948696(c.456-4042T>A),
38948824(c.456-4170G>A),
38949011(c.456-4357C>T),
38949119(c.456-4465C>A),
38949167(c.456-4513A>T),
38949220(c.456-4566G>A),
38949330(c.456-4676C>G),
38949334(c.456-4680A>C),
38949346(c.456-4692C>T),
38949403(c.455+4706G>A),
38949419(c.455+4690G>A),
38949536(c.455+4573C>T),
38949719(c.455+4390T>C),
38949987(c.455+4122A>G),
38950055(c.455+4054G>C),
38950083(c.455+4026A>G),
38950118(c.455+3991G>A),
38950205(c.455+3904T>G),
38950290(c.455+3819C>G),
38950436(c.455+3673T>C),
38950440(c.455+3669T>C),
38950529(c.455+3580G>T),
38950588(c.455+3521A>G),
38950714(c.455+3395T>C),
38950966(c.455+3143T>C),
38950987(c.455+3122G>A),
38951417(c.455+2692A>T),
38951472(c.455+2637C>T),
38951547(c.455+2562G>A),
38951604(c.455+2505T>C),
38951720(c.455+2389G>C),
38951863(c.455+2246G>A),
38951920(c.455+2189G>A),
38951956(c.455+2153T>C),
38951988(c.455+2121T>C),
38953072(c.455+1037C>T),
38953116(c.455+993C>T),
38953719(c.455+390A>C),
38953886(c.455+223T>C),
38954247(c.334-17T>C),
38954802(c.334-572T>A),
38954880(c.334-650G>T),
38955023(c.333+626G>A),
38955130(c.333+519C>G),
38955338(c.333+311T>C),
38955540(c.333+109T>G),
38956130(c.46-194G>A),
38956436(c.46-500T>A),
38956446(c.46-510T>C),
38956529(c.46-593T>C),
38956639(c.46-703T>C),
38956895(c.46-959G>A),
38956947(c.46-1011A>T),
38957162(c.46-1226A>G),
38957287(c.46-1351A>T),
38957552(c.46-1616C>T),
38957612(c.46-1676T>C),
38957792(c.46-1856T>C),
38958014(c.46-2078T>C),
38958100(c.46-2164T>C),
38959666(c.45+947G>C),
38959695(c.45+918T>A),
38959811(c.45+802C>T),
38960255(c.45+358G>C),
38960562(c.45+51G>A),
-1kb
38927216(c.*5550A>G),
38927278(c.*5488T>C),
38927314(c.*5452G>A),
38927320(c.*5446A>T),
38927430(c.*5336A>T),
38927841(c.*4925C>T),
38927848(c.*4918C>T),
38927879(c.*4887G>A),
38927896(c.*4870G>A),
38927918(c.*4848G>C),
38928112(c.*4654T>G),
38928169(c.*4597G>A),
38928173(c.*4593T>C),
38928241(c.*4525A>G),
38928269(c.*4497T>C),
38928282(c.*4484G>A),
38928329(c.*4437G>A),
38928427(c.*4339A>T),
38928461(c.*4305C>T),
38928625(c.*4141G>A),
38928685(c.*4081C>T),
38928688(c.*4078G>A),
38928838(c.*3928A>G),
38928946(c.*3820C>G),
38929136(c.*3630T>G),
38929166(c.*3600A>G),
38929239(c.*3527G>T),
38929306(c.*3460T>C),
38929488(c.*3278T>C),
38929658(c.*3108A>G),
38929712(c.*3054G>A),
38929909(c.*2857G>A),
38929927(c.*2839C>T),
38930006(c.*2760T>C),
38930034(c.*2732C>T),
38930301(c.*2465C>A),
38930334(c.*2432T>G),
38930428(c.*2338C>G),
38930621(c.*2145C>T),
38930647(c.*2119C>T),
38930792(c.*1974A>G),
38931172(c.*1594T>C),
38931390(c.*1376T>A),
38931392(c.*1374G>A),
38931417(c.*1349G>T),
38931471(c.*1295T>C),
38932025(c.*741C>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
38933454 (c.1092-539_1092-538insGGG),
38935752 (c.1022-946_1022-945insGTTC),
38941503 (c.719-1532dupG),
38942627 (c.718+430_718+431dupTT),
38942631 (c.718+427_718+428insTT),
38942872 (c.718+186_718+187insTT),
38943798 (c.611-633dupT),
38945506 (c.456-853_456-852insT),
38947824 (c.456-3171dupA),
38948693 (c.456-4040_456-4039insG),
38949362 (c.456-4710_456-4709dupTC),
38950749 (c.455+3356_455+3359dupTGTT),
38952076 (c.455+2031_455+2032dupCC),
38954705 (c.334-476dupA),
38956547 (c.46-612_46-611insCAAAA),
38956776 (c.46-841dupT),
38959383 (c.45+1229_45+1230insTCGAG),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
38934562 (c.1091+175delT),
38935382 (c.1022-578_1022-576delGCG),
38939385 (c.816+489delA),
38942610 (c.718+444_718+448delAGATA),
38944087 (c.610+410_610+412delGCT),
38945019 (c.456-367_456-366delGG),
38945276 (c.456-623delA),
38946831 (c.456-2178delG),
38946877 (c.456-2224delG),
38946911 (c.456-2258delG),
38951737 (c.455+2370_455+2371delAT),
38956393 (c.46-461_46-458delTTCA),
38957174 (c.46-1240_46-1239delTC),
38958469 (c.45+2137_45+2143delTTCTGAT),
38958492 (c.45+2120delC),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 1 |
| synonymous substitutions |
38932832 (p.Ser392Ser),
38932889 (p.Val373Val),
38943087 (p.Ser230Ser),
38955805 (p.Ser59Ser),
38960625 (p.Glu11Glu),
|
| non-synonymous substitutions |
38955753 (p.Val77Ile),
|
B6 transcript
(ENSMUST00000021870)
|
MDRTLAQSTQEQGGEAQPAEERQDEASEKSRDQVAGLDCGRAETMDLKFNNSRKYVSISV
PSKTQAMSPHIKSVEDVVVLGVNLSKFSKLTQFLICVAGVFVFYLIYGYLQELIFSVEGF
KPYGWYLTLVQFAFYSVFGLIELQLTQDRRRRIPGKTYMLIAFLTVGTMGLSNTSLGYLN
YPTQVIFKCCKLIPVMLGGVFIQGKRYNLADVSAAVCMSLGLIWFTLADSTIAPNFNLTG
VMLISLALCADAVIGNVQEKAMKLHNASNSEMVLYSYSIGFVYILLGLSCTSGLGPAVAF
CSKNPVGTYGYAFLFSLTGYFGISFVLALIKIFGALLAVTVTTGRKAMTVVLSFLFFAKP
FTFQYIWSGLLVVLGIFLNVYSKNMDKIRLPSVYNMIKKAMDMKKSRTLAQTV*
|
|
MSMv4 transcript
|
MDRTLAQSTQEQGGEAQPAEERQDEASEKSRDQVAGLDCGRAETMDLKFNNSRKYVSISV
PSKTQAMSPHIKSVEDIVVLGVNLSKFSKLTQFLICVAGVFVFYLIYGYLQELIFSVEGF
KPYGWYLTLVQFAFYSVFGLIELQLTQDRRRRIPGKTYMLIAFLTVGTMGLSNTSLGYLN
YPTQVIFKCCKLIPVMLGGVFIQGKRYNLADVSAAVCMSLGLIWFTLADSTIAPNFNLTG
VMLISLALCADAVIGNVQEKAMKLHNASNSEMVLYSYSIGFVYILLGLSCTSGLGPAVAF
CSKNPVGTYGYAFLFSLTGYFGISFVLALIKIFGALLAVTVTTGRKAMTVVLSFLFFAKP
FTFQYIWSGLLVVLGIFLNVYSKNMDKIRLPSVYNMIKKAMDMKKSRTLAQTV*
|
| homology | 99.76 (414 / 414) |
|