| Reports |
|---|
| substitution |
|---|
| cSNPs | 17 |
|---|
| Insertion | 23 |
|---|
| Deletion | 38 |
|---|
| SNPs |
-1kb
40461147(c.-10610A>G),
40461235(c.-10522C>T),
40461275(c.-10482C>T),
40461302(c.-10455T>C),
40461308(c.-10449T>C),
40461375(c.-10382A>G),
40461517(c.-10240T>C),
40461676(c.-10081A>G),
40462111(c.-9646C>T),
40462217(c.-9540C>A),
40462231(c.-9526C>T),
40462244(c.-9513C>T),
40462705(c.-9052T>C),
40462851(c.-8906C>T),
40462975(c.-8782C>T),
40462985(c.-8772A>T),
40463051(c.-8706C>A),
40463063(c.-8694A>G),
40463164(c.-8593G>T),
40463184(c.-8573C>T),
40463281(c.-8476G>A),
40463308(c.-8449G>A),
40463524(c.-8233C>T),
40463669(c.-8088A>T),
40463772(c.-7985C>T),
40463781(c.-7976C>T),
40463974(c.-7783G>A),
40464173(c.-7584G>A),
40464185(c.-7572T>C),
40464284(c.-7473A>G),
40464395(c.-7362T>G),
40464533(c.-7224C>T),
40464534(c.-7223A>G),
40464716(c.-7041C>T),
40464717(c.-7040A>G),
40465128(c.-6629T>C),
40465149(c.-6608C>T),
40465173(c.-6584T>C),
40465196(c.-6561G>C),
40465226(c.-6531C>G),
40465309(c.-6448A>G),
40465564(c.-6193C>G),
40465671(c.-6086G>C),
40465687(c.-6070T>C),
40465775(c.-5982T>G),
40465797(c.-5960T>C),
40465902(c.-5855G>A),
- 5'UTR
- CDS
40474858(c.223C>T),
40478499(c.420T>G),
40480987(c.537C>T),
40481021(c.571A>G),
40481024(c.574C>T),
40491135(c.1021A>G),
40491193(c.1079C>T),
40495903(c.1257C>T),
40498348(c.1272G>T),
40498456(c.1380A>T),
40498474(c.1398T>A),
40498498(c.1422T>G),
40498517(c.1441T>C),
40498587(c.1511T>C),
40498595(c.1519A>C),
40498660(c.1584G>C),
40498670(c.1594T>C),
- 3'UTR
40466096(c.-290A>C),
40466133(c.-253T>C),
40466252(c.-134T>A),
40498705(c.*15T>C),
40498732(c.*42T>A),
40498764(c.*74A>G),
40499108(c.*418T>C),
40499146(c.*456T>C),
40499235(c.*545G>A),
40499242(c.*552C>T),
40499283(c.*593G>A),
40499294(c.*604C>T),
40499412(c.*722T>C),
40499473(c.*783G>A),
40499514(c.*824C>T),
40499620(c.*930G>A),
40499676(c.*986T>C),
40499818(c.*1128A>G),
40499820(c.*1130T>C),
40499864(c.*1174C>G),
40499946(c.*1256A>G),
40499987(c.*1297A>G),
40500004(c.*1314G>A),
40500245(c.*1555G>A),
40500276(c.*1586A>G),
40500769(c.*2079C>T),
40500785(c.*2095G>A),
- INTRON
40467088(c.-29+731C>T),
40467098(c.-29+741T>C),
40467179(c.-29+822C>T),
40467343(c.-29+986G>A),
40467405(c.-29+1048C>T),
40467440(c.-29+1083G>A),
40467582(c.-29+1225A>T),
40467814(c.-29+1457C>T),
40467952(c.-29+1595T>A),
40468219(c.-29+1862T>C),
40468276(c.-29+1919T>C),
40468375(c.-29+2018T>C),
40468376(c.-29+2019T>C),
40468561(c.-29+2204A>G),
40468568(c.-29+2211G>C),
40468678(c.-29+2321T>C),
40468778(c.-29+2421A>C),
40468831(c.-29+2474A>T),
40468837(c.-29+2480A>G),
40468844(c.-29+2487A>G),
40469084(c.-28-2645T>C),
40469085(c.-28-2644G>A),
40469157(c.-28-2572T>C),
40469190(c.-28-2539G>T),
40469671(c.-28-2058G>A),
40469683(c.-28-2046C>T),
40469723(c.-28-2006G>A),
40470026(c.-28-1703T>C),
40470222(c.-28-1507A>T),
40470448(c.-28-1281G>A),
40470491(c.-28-1238T>C),
40470566(c.-28-1163C>T),
40470610(c.-28-1119A>G),
40470645(c.-28-1084G>T),
40470771(c.-28-958T>A),
40470792(c.-28-937C>A),
40471021(c.-28-708A>G),
40471214(c.-28-515C>T),
40471245(c.-28-484T>C),
40471246(c.-28-483A>G),
40471382(c.-28-347C>T),
40471599(c.-28-130T>G),
40471614(c.-28-115G>A),
40472103(c.58+289T>C),
40472696(c.58+882A>C),
40473085(c.58+1271T>A),
40473371(c.59-1323T>A),
40473915(c.59-779A>G),
40473946(c.59-748C>T),
40474057(c.59-637C>G),
40474290(c.59-404T>A),
40475046(c.305+106T>C),
40475461(c.305+521T>C),
40475628(c.305+688A>G),
40475632(c.305+692A>G),
40475894(c.305+954T>C),
40475999(c.305+1059G>T),
40476036(c.305+1096T>C),
40476524(c.305+1584G>T),
40476969(c.306-1416T>A),
40477585(c.306-800G>T),
40477623(c.306-762C>T),
40478700(c.471+150G>A),
40478706(c.471+156T>C),
40478736(c.471+186A>G),
40478746(c.471+196C>T),
40479183(c.471+633T>C),
40479184(c.471+634A>G),
40479210(c.471+660C>T),
40479239(c.471+689T>C),
40479242(c.471+692G>A),
40479264(c.471+714G>A),
40479272(c.471+722A>G),
40479294(c.471+744C>T),
40479332(c.471+782G>A),
40479344(c.471+794C>T),
40479444(c.471+894C>T),
40479497(c.471+947T>A),
40479838(c.472-1084A>G),
40480725(c.472-197C>A),
40480726(c.472-196A>G),
40480744(c.472-178T>C),
40481158(c.616+92T>G),
40481279(c.616+213C>A),
40481314(c.616+248T>C),
40481541(c.616+475C>T),
40481542(c.616+476T>C),
40481619(c.616+553G>A),
40481670(c.616+604G>A),
40481746(c.616+680C>T),
40481792(c.616+726C>T),
40481811(c.616+745A>G),
40481815(c.616+749G>A),
40481898(c.616+832A>G),
40482765(c.617-1516G>A),
40482844(c.617-1437G>A),
40482846(c.617-1435C>T),
40482938(c.617-1343G>A),
40483117(c.617-1164T>C),
40483128(c.617-1153G>A),
40483153(c.617-1128T>C),
40483170(c.617-1111A>C),
40483178(c.617-1103A>G),
40483237(c.617-1044C>T),
40483286(c.617-995C>T),
40483289(c.617-992T>C),
40483304(c.617-977G>A),
40483350(c.617-931G>A),
40483358(c.617-923G>A),
40483359(c.617-922T>C),
40483394(c.617-887C>T),
40483408(c.617-873T>A),
40483498(c.617-783T>C),
40483509(c.617-772T>C),
40483522(c.617-759T>G),
40483568(c.617-713A>G),
40483684(c.617-597G>A),
40483805(c.617-476G>A),
40483836(c.617-445G>A),
40483841(c.617-440T>A),
40483924(c.617-357A>G),
40483938(c.617-343G>A),
40484019(c.617-262A>G),
40484038(c.617-243C>A),
40484050(c.617-231G>A),
40484213(c.617-68A>T),
40484350(c.679+7C>T),
40484398(c.679+55C>T),
40484408(c.679+65A>C),
40484567(c.679+224T>C),
40484612(c.679+269A>C),
40484665(c.679+322T>C),
40484666(c.679+323C>A),
40484673(c.679+330G>A),
40484741(c.679+398C>G),
40484760(c.679+417T>C),
40484793(c.679+450T>C),
40484804(c.679+461A>G),
40484863(c.679+520C>T),
40484883(c.679+540C>A),
40484911(c.679+568T>C),
40484919(c.679+576C>A),
40484956(c.679+613A>G),
40484969(c.679+626T>A),
40485061(c.679+718T>A),
40486101(c.680-874A>T),
40486548(c.680-427C>T),
40486563(c.680-412C>T),
40486575(c.680-400G>A),
40486874(c.680-101A>G),
40487135(c.803+37G>A),
40487344(c.803+246T>C),
40487491(c.803+393G>T),
40487547(c.803+449G>A),
40488157(c.803+1059G>T),
40488167(c.803+1069A>C),
40488456(c.804-1145A>T),
40488631(c.804-970G>A),
40489438(c.804-163G>T),
40489536(c.804-65G>A),
40489953(c.943+213T>C),
40490032(c.943+292C>T),
40490234(c.943+494C>A),
40490252(c.943+512T>C),
40490303(c.943+563T>C),
40490403(c.944-655C>A),
40490634(c.944-424G>A),
40490650(c.944-408C>G),
40490662(c.944-396C>T),
40490759(c.944-299C>A),
40490910(c.944-148T>C),
40490912(c.944-146C>G),
40491259(c.1102+43G>A),
40491721(c.1102+505G>A),
40491739(c.1102+523A>C),
40491900(c.1102+684C>G),
40491962(c.1102+746G>A),
40492027(c.1102+811A>C),
40492073(c.1102+857G>A),
40492638(c.1102+1422A>G),
40492652(c.1102+1436G>A),
40493026(c.1102+1810G>A),
40493030(c.1102+1814G>A),
40493083(c.1102+1867A>G),
40493455(c.1102+2239T>C),
40493576(c.1103-2173A>G),
40493635(c.1103-2114C>T),
40493639(c.1103-2110T>A),
40493641(c.1103-2108T>A),
40493850(c.1103-1899C>T),
40493942(c.1103-1807A>C),
40494017(c.1103-1732G>A),
40494271(c.1103-1478T>C),
40494311(c.1103-1438A>G),
40494435(c.1103-1314T>A),
40494581(c.1103-1168C>T),
40494582(c.1103-1167C>A),
40494794(c.1103-955G>C),
40494833(c.1103-916C>T),
40494839(c.1103-910C>T),
40495006(c.1103-743C>G),
40495010(c.1103-739C>G),
40495019(c.1103-730C>T),
40495080(c.1103-669G>T),
40495091(c.1103-658A>G),
40495121(c.1103-628A>G),
40495129(c.1103-620C>T),
40495569(c.1103-180T>C),
40495622(c.1103-127T>C),
40495978(c.1261+71C>T),
40497507(c.1262-831T>G),
40497534(c.1262-804G>A),
40497553(c.1262-785T>A),
40497609(c.1262-729A>G),
40497673(c.1262-665A>T),
40497774(c.1262-564A>G),
40498021(c.1262-317T>G),
40498077(c.1262-261T>C),
40498243(c.1262-95C>T),
-
+1kb
40500889(c.*2199G>A),
40500906(c.*2216T>C),
40500963(c.*2273G>T),
40501084(c.*2394C>T),
40501101(c.*2411T>C),
40501146(c.*2456G>A),
40501189(c.*2499A>G),
40501191(c.*2501C>T),
40501223(c.*2533A>T),
40501237(c.*2547A>T),
40501284(c.*2594A>G),
40501688(c.*2998C>G),
40501756(c.*3066A>G),
40501780(c.*3090G>C),
40501783(c.*3093A>T),
40501899(c.*3209G>C),
40502000(c.*3310T>A),
40502056(c.*3366T>C),
40502150(c.*3460G>T),
40502273(c.*3583A>G),
40502379(c.*3689C>T),
40502622(c.*3932G>T),
40502627(c.*3937A>G),
40502814(c.*4124T>G),
40502890(c.*4200C>T),
40502931(c.*4241G>T),
40503228(c.*4538A>G),
40503401(c.*4711G>A),
40503653(c.*4963C>T),
40503804(c.*5114A>T),
40503941(c.*5251A>G),
40504006(c.*5316T>C),
40504051(c.*5361C>T),
40504189(c.*5499G>A),
40504337(c.*5647T>G),
40504447(c.*5757A>G),
40504590(c.*5900C>T),
40504628(c.*5938A>G),
40504636(c.*5946G>A),
40504851(c.*6161C>T),
40504971(c.*6281T>C),
40505031(c.*6341C>T),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
40468385 (c.-29+2033_-29+2036delACCT),
40469479 (c.-28-2249_-28-2247delTTT),
40471058 (c.-28-662_-28-658delATACA),
40471301 (c.-28-427delC),
40471421 (c.-28-298delT),
40473359 (c.59-1323delT),
40475036 (c.305+103delT),
40475137 (c.305+198_305+201delTGTA),
40475600 (c.305+661_305+664delCAGC),
40475979 (c.305+1041delG),
40478783 (c.471+234_471+236delCTC),
40478888 (c.471+348delT),
40481177 (c.616+112delC),
40481208 (c.616+143_616+145delTTT),
40486086 (c.680-881_680-880delTT),
40487746 (c.803+657delT),
40490377 (c.943+638_943+639delTA),
40490891 (c.944-166delC),
40491234 (c.1102+19delA),
40491866 (c.1102+651delT),
40491984 (c.1102+776_1102+777delAA),
40491991 (c.1102+776_1102+777delAA),
40492212 (c.1102+1008_1102+1015delTCTGCCTG),
40492414 (c.1102+1209_1102+1212delGGTG),
40492785 (c.1102+1570_1102+1571delGG),
40492832 (c.1102+1617_1102+1621delGTTTT),
40493627 (c.1103-2119delA),
40494704 (c.1103-1040delT),
40495266 (c.1103-482delC),
40495672 (c.1103-76_1103-75delTT),
40495701 (c.1103-41delT),
40495707 (c.1103-41delT),
40497682 (c.1262-655_1262-652delACTT),
40497697 (c.1262-640_1262-638delTTT),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 8 |
|---|
| non-synonymous num | 9 |
|---|
| synonymous substitutions |
40478499 (p.Thr140Thr),
40480987 (p.Tyr179Tyr),
40495903 (p.Gly419Gly),
40498456 (p.Ala460Ala),
40498474 (p.Ile466Ile),
40498498 (p.Thr474Thr),
40498595 (p.Arg507Arg),
40498660 (p.Ser528Ser),
|
|---|
| non-synonymous substitutions |
40474858 (p.Pro75Ser),
40481021 (p.Thr191Ala),
40481024 (p.Arg192Trp),
40491135 (p.Ile341Val),
40491193 (p.Ala360Val),
40498348 (p.Glu424Asp),
40498517 (p.Phe481Leu),
40498587 (p.Met504Thr),
40498670 (p.Ser532Pro),
|
|---|
B6 transcript
(ENSMUST00000108044)
|
MHHEELILTLCILIVKSASKSCIHRSQIHVVEGEPFYLKPCGISAPVHRNETATMRWFKG
SASHEYRELNNRSSPRVTFHDHTLEFWPVEMEDEGTYISQVGNDRRNWTLNVTKRNKHSC
FSDKLVTSRDVEVNKSLHITCKNPNYEELIQDTWLYKNCKEISKTPRILKDAEFGDEGYY
SCVFSVHHNGTRYNITKTVNITVIEGRSKVTPAILGPKCEKVGVELGKDVELNCSASLNK
DDLFYWSIRKEDSSDPNVQEDRKETTTWISEGKLHASKILRFQKITENYLNVLYNCTVAN
EEAIDTKSFVLVRKEIPDIPGHVFTGGVTVLVLASVAAVCIVILCVIYKVDLVLFYRRIA
ERDETLTDGKTYDAFVSYLKECHPENKEEYTFAVETLPRVLEKQFGYKLCIFERDVVPGG
AVVEEIHSLIEKSRRLIIVLSQSYLTNGARRELESGLHEALVERKIKIILIEFTPASNIT
FLPPSLKLLKSYRVLKWRADSPSMNSRFWKNLVYLMPAKAVKPWREESEARSVLSAP*
|
|
MSMv4 transcript
|
MHHEELILTLCILIVKSASKSCIHRSQIHVVEGEPFYLKPCGISAPVHRNETATMRWFKG
SASHEYRELNNRSSSRVTFHDHTLEFWPVEMEDEGTYISQVGNDRRNWTLNVTKRNKHSC
FSDKLVTSRDVEVNKSLHITCKNPNYEELIQDTWLYKNCKEISKTPRILKDAEFGDEGYY
SCVFSVHHNGAWYNITKTVNITVIEGRSKVTPAILGPKCEKVGVELGKDVELNCSASLNK
DDLFYWSIRKEDSSDPNVQEDRKETTTWISEGKLHASKILRFQKITENYLNVLYNCTVAN
EEAIDTKSFVLVRKEIPDIPGHVFTGGVTVLVLASVAAVCVVILCVIYKVDLVLFYRRIV
ERDETLTDGKTYDAFVSYLKECHPENKEEYTFAVETLPRVLEKQFGYKLCIFERDVVPGG
AVVDEIHSLIEKSRRLIIVLSQSYLTNGARRELESGLHEALVERKIKIILIEFTPASNIT
LLPPSLKLLKSYRVLKWRADSPSTNSRFWKNLVYLMPAKAVKPWREESEARPVLSAP*
|
| homology | 98.33 (538 / 538) |
|---|
|
