Reports |
substitution |
cSNPs | 6 |
Insertion | 36 |
Deletion | 27 |
SNPs |
-1kb
163598067(c.-9160T>G),
163598085(c.-9142T>A),
163598106(c.-9121A>G),
163598355(c.-8872A>G),
163598492(c.-8735A>G),
163598597(c.-8630A>G),
163598617(c.-8610T>G),
163598623(c.-8604T>C),
163598675(c.-8552A>G),
163598680(c.-8547G>T),
163598681(c.-8546G>T),
163598716(c.-8511T>C),
163598754(c.-8473C>T),
163598779(c.-8448G>T),
163598874(c.-8353A>G),
163598888(c.-8339G>A),
163598948(c.-8279A>T),
163598965(c.-8262C>T),
163599049(c.-8178C>G),
163599110(c.-8117A>G),
163599127(c.-8100T>A),
163599318(c.-7909C>T),
163599360(c.-7867T>C),
163599367(c.-7860G>A),
163599602(c.-7625T>C),
163599619(c.-7608C>A),
163599905(c.-7322C>T),
163599981(c.-7246A>G),
163600006(c.-7221C>G),
163600007(c.-7220A>T),
163600034(c.-7193A>G),
163600082(c.-7145C>T),
163600109(c.-7118A>C),
163600179(c.-7048C>T),
163600188(c.-7039A>C),
163600215(c.-7012A>C),
163600321(c.-6906G>A),
163600325(c.-6902G>A),
163600350(c.-6877C>T),
163600411(c.-6816G>T),
163600569(c.-6658C>T),
163600571(c.-6656G>T),
163600751(c.-6476T>A),
163600755(c.-6472T>A),
163600774(c.-6453C>G),
163600776(c.-6451A>G),
163600788(c.-6439A>G),
163600825(c.-6402G>A),
163600889(c.-6338T>C),
163600940(c.-6287T>C),
163601038(c.-6189T>C),
163601068(c.-6159A>G),
163601168(c.-6059T>C),
163601396(c.-5831G>A),
163601432(c.-5795T>C),
163601461(c.-5766C>T),
163601663(c.-5564A>G),
163601702(c.-5525G>A),
163601746(c.-5481A>G),
163601791(c.-5436G>A),
163602071(c.-5156A>G),
163602074(c.-5153A>T),
163602078(c.-5149G>A),
163602100(c.-5127A>G),
163602208(c.-5019G>C),
163602242(c.-4985A>G),
163602245(c.-4982A>G),
5'UTR
CDS
3'UTR
INTRON
163602648(c.-16+234C>T),
163602860(c.-16+446G>A),
163602913(c.-16+499C>T),
163602989(c.-16+575C>T),
163602990(c.-16+576A>G),
163603066(c.-16+652G>A),
163603094(c.-16+680T>C),
163603117(c.-16+703A>G),
163603238(c.-16+824T>G),
163603260(c.-16+846G>C),
163603263(c.-16+849A>G),
163603314(c.-16+900A>T),
163603461(c.-16+1047C>A),
163603572(c.-16+1158A>G),
163603625(c.-16+1211C>T),
163603627(c.-16+1213C>A),
163603657(c.-16+1243T>C),
163603717(c.-16+1303A>G),
163603764(c.-16+1350T>G),
163603790(c.-16+1376A>G),
163603917(c.-16+1503A>G),
163603947(c.-16+1533A>G),
163604111(c.-16+1697A>C),
163604144(c.-16+1730T>C),
163604176(c.-16+1762A>T),
163604231(c.-16+1817G>C),
163604238(c.-16+1824A>G),
163604244(c.-16+1830T>G),
163604262(c.-16+1848C>G),
163604265(c.-16+1851G>A),
163604634(c.-16+2220C>G),
163604669(c.-16+2255T>C),
163604704(c.-16+2290C>A),
163604713(c.-16+2299G>C),
163604714(c.-16+2300T>C),
163604760(c.-16+2346A>G),
163604782(c.-16+2368T>C),
163604796(c.-16+2382T>C),
163604895(c.-15-2317A>G),
163605001(c.-15-2211G>A),
163605015(c.-15-2197G>T),
163605110(c.-15-2102C>A),
163605120(c.-15-2092A>G),
163605186(c.-15-2026T>C),
163605188(c.-15-2024A>G),
163605190(c.-15-2022C>T),
163605273(c.-15-1939T>C),
163605319(c.-15-1893C>G),
163605381(c.-15-1831G>A),
163605401(c.-15-1811T>C),
163605488(c.-15-1724T>C),
163605514(c.-15-1698G>A),
163605536(c.-15-1676T>A),
163605577(c.-15-1635T>C),
163605626(c.-15-1586A>G),
163605636(c.-15-1576A>G),
163605868(c.-15-1344C>T),
163605870(c.-15-1342A>T),
163605888(c.-15-1324C>T),
163605891(c.-15-1321A>G),
163605895(c.-15-1317A>T),
163605904(c.-15-1308A>T),
163605956(c.-15-1256T>C),
163606209(c.-15-1003C>G),
163606253(c.-15-959A>G),
163606304(c.-15-908G>C),
163606305(c.-15-907C>G),
163606374(c.-15-838G>A),
163606413(c.-15-799T>A),
163606448(c.-15-764A>C),
163606455(c.-15-757C>T),
163606467(c.-15-745T>C),
163606532(c.-15-680T>G),
163606748(c.-15-464T>C),
163606844(c.-15-368G>A),
163606923(c.-15-289T>C),
163607092(c.-15-120G>T),
163607105(c.-15-107G>A),
163607108(c.-15-104T>C),
163607146(c.-15-66A>G),
163607147(c.-15-65C>T),
163607152(c.-15-60C>T),
163608019(c.448+345A>G),
163608026(c.448+352T>C),
163608034(c.448+360T>C),
163608043(c.448+369T>C),
163608174(c.448+500T>C),
163608223(c.448+549C>T),
163608413(c.448+739A>G),
163608442(c.448+768G>T),
163608464(c.448+790T>G),
163608478(c.448+804C>A),
163608481(c.448+807A>C),
163608742(c.448+1068C>G),
163608784(c.448+1110A>T),
163608800(c.448+1126C>T),
163608815(c.448+1141G>A),
163609289(c.448+1615C>T),
163609308(c.448+1634C>T),
163609348(c.448+1674G>A),
163609357(c.448+1683T>C),
163609360(c.448+1686C>T),
163609384(c.448+1710T>C),
163609477(c.448+1803G>T),
163609676(c.448+2002C>T),
163609700(c.448+2026C>T),
163609708(c.448+2034A>G),
163609715(c.448+2041G>A),
163609835(c.449-1924C>T),
163609868(c.449-1891C>T),
163610109(c.449-1650A>T),
163610172(c.449-1587G>A),
163610183(c.449-1576C>T),
163610201(c.449-1558G>A),
163610205(c.449-1554C>A),
163610244(c.449-1515T>C),
163610301(c.449-1458G>A),
163610334(c.449-1425G>A),
163610357(c.449-1402T>C),
163610378(c.449-1381T>C),
163610380(c.449-1379C>T),
163610449(c.449-1310G>A),
163610520(c.449-1239A>C),
163610609(c.449-1150G>T),
163610641(c.449-1118T>G),
163610657(c.449-1102A>G),
163610658(c.449-1101G>A),
163610666(c.449-1093G>T),
163610920(c.449-839G>A),
163610950(c.449-809T>C),
163610962(c.449-797T>C),
163610965(c.449-794C>A),
163610967(c.449-792G>T),
163611089(c.449-670C>G),
163611131(c.449-628A>G),
163611249(c.449-510G>A),
163611284(c.449-475A>G),
163611347(c.449-412G>A),
163611399(c.449-360A>G),
163611429(c.449-330G>A),
163611480(c.449-279G>A),
163611561(c.449-198A>G),
163611593(c.449-166C>T),
163612062(c.642+110G>A),
163612163(c.642+211G>C),
163612172(c.642+220C>T),
163612198(c.642+246C>A),
163612350(c.642+398G>A),
163612362(c.642+410A>G),
163612369(c.642+417C>A),
163612381(c.642+429C>T),
163612421(c.642+469C>A),
163612462(c.642+510C>T),
163612503(c.642+551G>T),
163612505(c.642+553A>T),
163612894(c.643-841G>A),
163613050(c.643-685A>G),
163613121(c.643-614C>G),
163613128(c.643-607T>C),
163613283(c.643-452C>T),
163613289(c.643-446T>C),
163613291(c.643-444T>C),
163613442(c.643-293C>T),
163613456(c.643-279A>G),
163613535(c.643-200C>T),
163613538(c.643-197T>C),
163613597(c.643-138C>G),
163613600(c.643-135T>C),
163613601(c.643-134G>A),
163613637(c.643-98T>C),
163613866(c.753+21G>A),
163613877(c.753+32A>T),
163613987(c.753+142G>A),
163614124(c.753+279A>G),
163614129(c.753+284A>T),
163614135(c.753+290G>A),
163614151(c.753+306T>A),
163614153(c.753+308A>T),
163614201(c.753+356A>G),
163614202(c.753+357C>T),
163614267(c.753+422A>G),
163614271(c.753+426A>G),
163614407(c.753+562T>C),
163614426(c.753+581A>G),
163614530(c.753+685G>A),
163614555(c.753+710A>C),
163614744(c.754-619T>C),
163614818(c.754-545T>C),
163615013(c.754-350T>C),
163615125(c.754-238T>G),
163615248(c.754-115T>C),
163615314(c.754-49A>G),
+1kb
163616503(c.*862C>A),
163616557(c.*916A>G),
163616689(c.*1048G>A),
163616779(c.*1138C>A),
163616958(c.*1317G>A),
163617054(c.*1413C>T),
163617126(c.*1485T>C),
163617153(c.*1512G>A),
163617429(c.*1788C>T),
163617480(c.*1839C>G),
163617561(c.*1920C>T),
163617570(c.*1929C>T),
163617676(c.*2035G>A),
163617715(c.*2074T>C),
163617732(c.*2091G>A),
163617762(c.*2121C>A),
163617895(c.*2254C>T),
163617955(c.*2314T>G),
163617975(c.*2334T>C),
163617998(c.*2357T>G),
163617999(c.*2358T>A),
163618006(c.*2365C>T),
163618212(c.*2571A>G),
163618213(c.*2572T>G),
163618214(c.*2573G>T),
163618215(c.*2574T>A),
163618290(c.*2649T>G),
163618403(c.*2762A>G),
163618441(c.*2800G>A),
163618458(c.*2817T>C),
163618476(c.*2835C>A),
163618829(c.*3188A>G),
163618887(c.*3246A>G),
163619011(c.*3370G>T),
163619059(c.*3418C>T),
163619121(c.*3480G>A),
163619146(c.*3505A>C),
163619350(c.*3709T>C),
163619655(c.*4014C>T),
163619789(c.*4148A>C),
163619902(c.*4261T>C),
163619926(c.*4285T>C),
163620151(c.*4510T>G),
163620174(c.*4533C>T),
163620182(c.*4541C>A),
163620297(c.*4656C>T),
163620353(c.*4712A>G),
163620387(c.*4746G>A),
163620392(c.*4751A>G),
163620394(c.*4753A>C),
163620432(c.*4791T>A),
163620468(c.*4827T>G),
163620472(c.*4831G>A),
163620499(c.*4858A>G),
163620514(c.*4873A>G),
163620628(c.*4987C>T),
163620684(c.*5043T>C),
163620744(c.*5103T>C),
163620756(c.*5115G>A),
163620785(c.*5144G>A),
163620813(c.*5172G>A),
163620958(c.*5317C>T),
163620967(c.*5326G>C),
163620972(c.*5331T>A),
163620989(c.*5348C>T),
163621007(c.*5366C>T),
163621015(c.*5374A>G),
163621113(c.*5472G>C),
163621130(c.*5489A>G),
163621157(c.*5516G>A),
163621184(c.*5543C>A),
163621213(c.*5572C>T),
163621227(c.*5586C>A),
163621278(c.*5637C>A),
163621401(c.*5760G>T),
163621409(c.*5768C>T),
163621440(c.*5799T>A),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
163602720 (c.-16+307dupT),
163602872 (c.-16+458_-16+459insCCA),
163602880 (c.-16+467dupA),
163602884 (c.-16+470_-16+471insA),
163603803 (c.-16+1389dupA),
163603820 (c.-16+1409_-16+1412dupTTCA),
163603827 (c.-16+1413_-16+1414insTTCA),
163603970 (c.-16+1557_-16+1559dupTTG),
163604749 (c.-16+2335_-16+2336insTT),
163604863 (c.-15-2349_-15-2348insTTTT),
163604926 (c.-15-2284_-15-2281dupGAAT),
163607913 (c.448+243dupT),
163608821 (c.448+1147_448+1148insA),
163610760 (c.449-999_449-998insTCT),
163612209 (c.642+254_642+257dupATAG),
163612538 (c.642+594_642+597dupCTTT),
163612868 (c.643-865_643-863dupTTT),
163613018 (c.643-717dupT),
163614326 (c.753+482_753+483insAA),
163614547 (c.753+702_753+703dupAA),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
163603429 (c.-16+1018_-16+1023delGGATGG),
163605998 (c.-15-1213_-15-1212delTT),
163606054 (c.-15-1150_-15-1149delGT),
163606393 (c.-15-814_-15-807delACGCACAG),
163606543 (c.-15-656_-15-654delTTT),
163607805 (c.448+132_448+137delCAGACT),
163607881 (c.448+208_448+211delAGTA),
163608839 (c.448+1166delC),
163610560 (c.449-1185_449-1184delTT),
163612241 (c.642+290_642+291delTG),
163613239 (c.643-495delT),
163614082 (c.753+238_753+239delAT),
+1kb
163617480 (c.*1840delT),
163617540 (c.*1900_*1905delCTCACT),
163617798 (c.*2158_*2159delTA),
163617801 (c.*2161_*2164delATTG),
163617885 (c.*2245delA),
163617909 (c.*2269_*2273delACTTT),
163618336 (c.*2696delC),
163620082 (c.*4442_*4444delCTC),
163620374 (c.*4734delT),
163620378 (c.*4738delT),
163620936 (c.*5296_*5298delATT),
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 6 |
non-synonymous num | 0 |
synonymous substitutions |
163607349 (p.Val41Val),
163607595 (p.Lys123Lys),
163607622 (p.Thr132Thr),
163611841 (p.Glu177Glu),
163615554 (p.Gln315Gln),
163615593 (p.Cys328Cys),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000109408)
|
MSEESDSLRTSPSVASLSENELPLPPPDPPGYVCSLTEDLVTKAREELQEKPEWRLRDVQ
ALRDMVRKEYPYLSTSLDDAFLLRFLRARKFDYDRALQLLVNYHGCRRSWPEVFSNLRPS
ALKDVLNSGFLTVLPHTDPRGCHVLCIRPDRWIPSNYPITENIRAVYLTLEKLIQSEETQ
VNGIVILADYKGVSLSKASHFGPFIAKKVIGILQDGFPIRIKAVHIVNEPRIFKGIFAII
KPFLKEKIANRFFLHGSDLNSLHTNLPRNILPKEYGGTAGELDTASWNAVLLASEEDFVK
EFCQPMPACDNLLGQPLLPEGLISDAQCDDSMRAMKSQLYSCY*
|
MSMv4 transcript
|
MSEESDSLRTSPSVASLSENELPLPPPDPPGYVCSLTEDLVTKAREELQEKPEWRLRDVQ
ALRDMVRKEYPYLSTSLDDAFLLRFLRARKFDYDRALQLLVNYHGCRRSWPEVFSNLRPS
ALKDVLNSGFLTVLPHTDPRGCHVLCIRPDRWIPSNYPITENIRAVYLTLEKLIQSEETQ
VNGIVILADYKGVSLSKASHFGPFIAKKVIGILQDGFPIRIKAVHIVNEPRIFKGIFAII
KPFLKEKIANRFFLHGSDLNSLHTNLPRNILPKEYGGTAGELDTASWNAVLLASEEDFVK
EFCQPMPACDNLLGQPLLPEGLISDAQCDDSMRAMKSQLYSCY*
|
homology | 100.00 (344 / 344) |
|