| Reports |
| substitution |
| cSNPs | 10 |
| Insertion | 18 |
| Deletion | 16 |
| SNPs |
-1kb
25401778(c.-5135T>G),
25402051(c.-4862A>G),
25402057(c.-4856G>A),
25402478(c.-4435A>G),
25403150(c.-3763G>A),
25403441(c.-3472C>T),
25403446(c.-3467A>G),
25403518(c.-3395C>T),
25403629(c.-3284C>T),
25403635(c.-3278A>T),
25403730(c.-3183T>G),
25403785(c.-3128T>C),
25403971(c.-2942C>T),
25404099(c.-2814C>T),
25404366(c.-2547A>G),
25404422(c.-2491G>T),
25404442(c.-2471G>T),
25404741(c.-2172C>T),
25404776(c.-2137G>T),
25405201(c.-1712C>T),
25405577(c.-1336G>A),
25406084(c.-829T>A),
25406198(c.-715C>T),
25406337(c.-576C>T),
25406644(c.-269T>G),
5'UTR
CDS
25409318(c.354G>A),
25409729(c.765A>G),
25409990(c.1026C>T),
25410164(c.1200C>T),
25410184(c.1220G>A),
25410281(c.1317T>C),
25411056(c.2092G>A),
25411643(c.2679T>C),
25411728(c.2764T>C),
25424228(c.3198C>T),
3'UTR
INTRON
25407408(c.121+375A>C),
25407667(c.121+634T>C),
25407939(c.121+906G>A),
25408148(c.122-938A>G),
25408402(c.122-684T>C),
25408460(c.122-626A>G),
25408600(c.122-486A>G),
25408715(c.122-371C>A),
25409065(c.122-21A>G),
25411836(c.2800+72A>G),
25411841(c.2800+77C>T),
25411871(c.2800+107G>A),
25411887(c.2800+123G>A),
25412081(c.2800+317C>T),
25412090(c.2800+326C>T),
25412096(c.2800+332C>T),
25412100(c.2800+336C>T),
25412106(c.2800+342C>T),
25412110(c.2800+346C>A),
25412111(c.2800+347C>A),
25412115(c.2800+351G>A),
25412147(c.2800+383C>T),
25412208(c.2800+444T>C),
25412331(c.2800+567A>G),
25412472(c.2800+708A>G),
25412473(c.2800+709C>T),
25412568(c.2800+804T>C),
25412573(c.2800+809A>G),
25412591(c.2800+827A>G),
25412622(c.2800+858C>T),
25412637(c.2800+873G>T),
25412735(c.2800+971A>G),
25412947(c.2800+1183A>G),
25412968(c.2800+1204A>G),
25413104(c.2800+1340C>T),
25413105(c.2800+1341C>T),
25413161(c.2800+1397T>A),
25413306(c.2800+1542G>A),
25413506(c.2800+1742T>C),
25413600(c.2800+1836T>C),
25413610(c.2800+1846C>T),
25413636(c.2800+1872T>C),
25414019(c.2800+2255T>C),
25414123(c.2800+2359A>G),
25415291(c.2800+3527A>T),
25415452(c.2800+3688C>G),
25415477(c.2800+3713G>C),
25415576(c.2800+3812T>C),
25415627(c.2800+3863C>T),
25415648(c.2800+3884G>A),
25415655(c.2800+3891G>A),
25415728(c.2800+3964C>T),
25415738(c.2800+3974C>T),
25415826(c.2800+4062A>G),
25415982(c.2800+4218T>C),
25416145(c.2800+4381C>T),
25416171(c.2800+4407T>C),
25416189(c.2800+4425G>A),
25416301(c.2800+4537T>G),
25416304(c.2800+4540A>G),
25416373(c.2800+4609A>C),
25416473(c.2800+4709A>G),
25416532(c.2800+4768A>G),
25416640(c.2800+4876T>A),
25416769(c.2800+5005A>G),
25416772(c.2800+5008C>G),
25416773(c.2800+5009A>G),
25416812(c.2800+5048T>A),
25416831(c.2800+5067C>T),
25416845(c.2800+5081A>G),
25416893(c.2800+5129G>A),
25416925(c.2800+5161T>C),
25416934(c.2800+5170A>G),
25416938(c.2800+5174T>G),
25416963(c.2801-5181G>A),
25417012(c.2801-5132T>C),
25417033(c.2801-5111C>T),
25417112(c.2801-5032C>G),
25417181(c.2801-4963T>C),
25417484(c.2801-4660T>C),
25417580(c.2801-4564A>G),
25417587(c.2801-4557C>T),
25417599(c.2801-4545G>A),
25417600(c.2801-4544G>A),
25417652(c.2801-4492T>C),
25418110(c.2801-4034G>A),
25418416(c.2801-3728A>G),
25418653(c.2801-3491A>G),
25418691(c.2801-3453G>A),
25418756(c.2801-3388G>A),
25418759(c.2801-3385T>A),
25418789(c.2801-3355C>A),
25418835(c.2801-3309A>G),
25418993(c.2801-3151T>C),
25419561(c.2801-2583A>G),
25419563(c.2801-2581G>A),
25419735(c.2801-2409C>G),
25419736(c.2801-2408A>T),
25419820(c.2801-2324C>T),
25420037(c.2801-2107T>C),
25420191(c.2801-1953A>G),
25420261(c.2801-1883A>G),
25420265(c.2801-1879T>A),
25420602(c.2801-1542T>C),
25420751(c.2801-1393T>C),
25420929(c.2801-1215T>C),
25420930(c.2801-1214G>A),
25420934(c.2801-1210C>T),
25421356(c.2801-788T>A),
25421485(c.2801-659T>C),
25421523(c.2801-621C>T),
25421542(c.2801-602G>A),
25421586(c.2801-558T>C),
25421606(c.2801-538A>G),
25421633(c.2801-511G>A),
25421797(c.2801-347A>G),
25422101(c.2801-43C>A),
25422425(c.2998+84G>T),
25422489(c.2998+148A>G),
25422610(c.2998+269C>T),
25422775(c.2999-144A>G),
25422798(c.2999-121T>G),
25423061(c.3107+34C>T),
25423098(c.3107+71G>A),
25423182(c.3107+155T>C),
25423405(c.3107+378A>G),
25423815(c.3108-323G>A),
25423843(c.3108-295G>A),
25423863(c.3108-275G>A),
25424436(c.3353+53A>G),
25424469(c.3353+86G>A),
25424492(c.3353+109C>T),
25424504(c.3353+121A>G),
25424510(c.3353+127A>G),
25424520(c.3353+137G>A),
25424534(c.3353+151T>C),
25424556(c.3353+173T>A),
25424589(c.3353+206A>G),
25424651(c.3353+268G>A),
25424654(c.3353+271T>C),
25424686(c.3353+303G>A),
25424707(c.3353+324C>A),
25424750(c.3353+367G>A),
25424757(c.3353+374T>C),
25424839(c.3353+456A>G),
25425108(c.3353+725C>A),
25425109(c.3353+726A>G),
25425213(c.3354-684T>C),
25425263(c.3354-634C>T),
25425274(c.3354-623C>T),
25425540(c.3354-357G>A),
25425576(c.3354-321A>G),
25425678(c.3354-219A>G),
25425687(c.3354-210T>C),
25425754(c.3354-143T>C),
25425814(c.3354-83G>A),
25425851(c.3354-46A>G),
+1kb
25425994(c.*10C>T),
25426100(c.*116T>C),
25426140(c.*156T>C),
25426592(c.*608G>A),
25426665(c.*681G>A),
25427023(c.*1039A>C),
25427767(c.*1783G>A),
25428135(c.*2151T>C),
25428440(c.*2456G>A),
25428673(c.*2689C>T),
25428698(c.*2714G>A),
25428939(c.*2955G>A),
25429095(c.*3111G>C),
25429125(c.*3141C>T),
25429142(c.*3158G>A),
25429143(c.*3159G>T),
25429166(c.*3182A>G),
25429269(c.*3285A>G),
25429327(c.*3343T>C),
25429354(c.*3370G>C),
25429386(c.*3402T>C),
25429389(c.*3405C>T),
25429390(c.*3406A>G),
25429459(c.*3475C>G),
25429466(c.*3482G>T),
25429606(c.*3622C>A),
25429613(c.*3629T>C),
25429743(c.*3759A>G),
25429859(c.*3875A>G),
25429952(c.*3968G>C),
25429974(c.*3990A>G),
25429976(c.*3992T>C),
25429983(c.*3999T>C),
25430022(c.*4038C>T),
25430070(c.*4086G>T),
25430087(c.*4103A>T),
25430119(c.*4135A>G),
25430382(c.*4398G>A),
25430411(c.*4427C>T),
25430454(c.*4470G>A),
25430480(c.*4496A>G),
25430531(c.*4547A>G),
25430739(c.*4755C>G),
25430854(c.*4870A>G),
25430980(c.*4996G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
25413052 (c.2800+1299dupG),
25416475 (c.2800+4711_2800+4712insC),
25416492 (c.2800+4729dupT),
25417122 (c.2801-5022dupA),
25417145 (c.2801-4996_2801-4995dupTT),
25417150 (c.2801-4994_2801-4993insTT),
25417344 (c.2801-4799_2801-4798insGT),
25418466 (c.2801-3680_2801-3678dupCTT),
25418581 (c.2801-3555dupA),
25418776 (c.2801-3367_2801-3366insCA),
25420256 (c.2801-1887dupG),
25421858 (c.2801-277dupT),
25422346 (c.2998+8_2998+9insCTTTCT),
25423270 (c.3107+243_3107+244insT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
25407171 (c.121+139_121+140delAC),
25408320 (c.122-765_122-764delTC),
25411801 (c.2800+40_2800+42delTAA),
25415821 (c.2800+4058_2800+4059delCA),
25416073 (c.2800+4311delT),
25416694 (c.2800+4931_2800+4936delGAAAAA),
25419040 (c.2801-3094_2801-3089delGAATTA),
25420811 (c.2801-1329_2801-1328delGT),
25424822 (c.3353+445delA),
25425329 (c.3354-556_3354-551delGTGTGT),
25425867 (c.3354-21delT),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 7 |
| non-synonymous num | 3 |
| synonymous substitutions |
25409318 (p.Glu118Glu),
25409729 (p.Pro255Pro),
25409990 (p.Asn342Asn),
25410164 (p.Ala400Ala),
25410281 (p.Asp439Asp),
25411643 (p.Ile893Ile),
25424228 (p.Pro1066Pro),
|
| non-synonymous substitutions |
25410184 (p.Arg407Gln),
25411056 (p.Val698Met),
25411728 (p.Ser922Pro),
|
B6 transcript
(ENSMUST00000146647)
|
MVSLRAWEVCAPVDRRSLKWRGAEPRPWVRRQEVGLLWACEKADGVLNGDHNKEKKDPYF
VETPYGFQLDLDFVKYVDDIQKGNTIKKLNIQKRRKPSVPCPEVRAIPGHQGVWTSTESL
SSSNSDDSKQCPSFLLARSHVTSTPIPRPPAPLETSPTFAVSENRQLLPPPSPQLPRHNL
HVTKTLMETRRRLEQERVTMQMAPGDFRRPRLASFGGMGSTSSLPSFVGSANHSSAIHQL
QNGYQGNGDYNSYVPAAPTTSSMGSSVRHSPLSSGISTPVTNVSPMHLQHIREQMAIALK
RLKELEEQVRTIPVLQVKISVLQEEKRQLASQLKSQRASSQNEACGVRKRSYSAGNASQL
ELLARARRGGGELYIDYEEEEMESVEQSTQRIQEFRQLTADMQALERKIQDSSCEVASEL
RENGQCPSRECKSVAVGSDENMNDVVVYHRDLRPCKDTAVGTVTETRNVGISVTEAMLGV
ITEADKEIELQQQTIEALKEKIYRLEVQLKETTHDREMTKLKQELQAAGSRKKVDKATMA
QPLVFSKLVEALVPTRDQMVGSHVDTRESCVGTSVQTSSVGTSCHPDCKNQVVGSELPMN
WWVVKERVAMHDQCVGRSVETCDRSVGVEVSVCETGSNTEASGSDLTLLKTNLNLKDVRS
IGCGDCSVDVIVCFPKECTSRSMNTEAVGQEEAAVMAVPHTTDQHTSTNLERVDQCTNTE
AATLVESCTNTLLSTMDKQTSTQTVEMRTVAIGEGRVRDINPSTKTRSVGVGTVLSGNSE
FDRPCAVKTKESGVGQINIQDNYLVGLKMRTIACGPPQLTVGLMGSRRSVGVGNEPVGEL
PEESPQPRVASGMVTGLDHYIERVQRLLAEQQTLLAENYSELAEAFGEPHSQIGSLNSQL
ISTLSSINSVMKSASTEELRNSDFQKASLGKTTGNHLEYTCKCGGLRSGGLLNVQPSQPE
VEAETAEGKHSRGHEQFPMQGSTLPPVNLTDDQIATGLYVCPNNENTLKSIMKKSDGNKD
SNGAKKNLQFIGINGGYETTSSDESSSDGSSSSESDDECDTIGYPPEEEEEEEEKDHDTR
GMAEGHHAVNIEGFKSARVEDEVQVPECEPEKEEIRERYELSEKMLSACNLLKYNIKDPK
ALASKDM
|
|
MSMv4 transcript
|
MVSLRAWEVCAPVDRRSLKWRGAEPRPWVRRQEVGLLWACEKADGVLNGDHNKEKKDPYF
VETPYGFQLDLDFVKYVDDIQKGNTIKKLNIQKRRKPSVPCPEVRAIPGHQGVWTSTESL
SSSNSDDSKQCPSFLLARSHVTSTPIPRPPAPLETSPTFAVSENRQLLPPPSPQLPRHNL
HVTKTLMETRRRLEQERVTMQMAPGDFRRPRLASFGGMGSTSSLPSFVGSANHSSAIHQL
QNGYQGNGDYNSYVPAAPTTSSMGSSVRHSPLSSGISTPVTNVSPMHLQHIREQMAIALK
RLKELEEQVRTIPVLQVKISVLQEEKRQLASQLKSQRASSQNEACGVRKRSYSAGNASQL
ELLARARRGGGELYIDYEEEEMESVEQSTQRIQEFRQLTADMQALEQKIQDSSCEVASEL
RENGQCPSRECKSVAVGSDENMNDVVVYHRDLRPCKDTAVGTVTETRNVGISVTEAMLGV
ITEADKEIELQQQTIEALKEKIYRLEVQLKETTHDREMTKLKQELQAAGSRKKVDKATMA
QPLVFSKLVEALVPTRDQMVGSHVDTRESCVGTSVQTSSVGTSCHPDCKNQVVGSELPMN
WWVVKERVAMHDQCVGRSVETCDRSVGVEVSVCETGSNTEASGSDLTLLKTNLNLKDVRS
IGCGDCSVDVIVCFPKECTSRSMNTEAVGQEEAAVMAMPHTTDQHTSTNLERVDQCTNTE
AATLVESCTNTLLSTMDKQTSTQTVEMRTVAIGEGRVRDINPSTKTRSVGVGTVLSGNSE
FDRPCAVKTKESGVGQINIQDNYLVGLKMRTIACGPPQLTVGLMGSRRSVGVGNEPVGEL
PEESPQPRVASGMVTGLDHYIERVQRLLAEQQTLLAENYSELAEAFGEPHSQIGSLNSQL
ISTLSSINSVMKSASTEELRNPDFQKASLGKTTGNHLEYTCKCGGLRSGGLLNVQPSQPE
VEAETAEGKHSRGHEQFPMQGSTLPPVNLTDDQIATGLYVCPNNENTLKSIMKKSDGNKD
SNGAKKNLQFIGINGGYETTSSDESSSDGSSSSESDDECDTIGYPPEEEEEEEEKDHDTR
GMAEGHHAVNIEGFKSARVEDEVQVPECEPEKEEIRERYELSEKMLSACNLLKYNIKDPK
ALASKDM
|
| homology | 99.74 (1147 / 1147) |
|