| Reports |
| substitution |
| cSNPs | 21 |
| Insertion | 24 |
| Deletion | 52 |
| SNPs |
-1kb
54499115(c.-4761A>G),
54499207(c.-4669A>G),
54499312(c.-4564C>T),
54499313(c.-4563A>G),
54499407(c.-4469G>A),
54499742(c.-4134G>A),
54499839(c.-4037C>T),
54499840(c.-4036A>G),
54499929(c.-3947T>C),
54500082(c.-3794T>C),
54500470(c.-3406C>T),
54500602(c.-3274C>T),
54501263(c.-2613C>T),
54501400(c.-2476T>C),
54501425(c.-2451T>G),
54501711(c.-2165G>A),
54501768(c.-2108A>G),
54502223(c.-1653T>A),
54502256(c.-1620G>T),
54502257(c.-1619T>G),
54502527(c.-1349A>G),
54502534(c.-1342G>C),
54502703(c.-1173T>C),
54502735(c.-1141G>A),
54503060(c.-816T>C),
54503110(c.-766C>T),
54503778(c.-98T>G),
5'UTR
CDS
54524330(c.490A>G),
54524985(c.1145C>T),
54525014(c.1174C>T),
54525017(c.1177G>A),
54525021(c.1181G>A),
54525132(c.1292T>C),
54525195(c.1355C>T),
54525203(c.1363C>T),
54525209(c.1369G>A),
54525214(c.1374G>A),
54525227(c.1387G>A),
54525228(c.1388G>A),
54525231(c.1391G>A),
54525235(c.1395A>G),
54525249(c.1409G>A),
54525571(c.1731G>A),
54525756(c.1916C>A),
54525786(c.1946C>T),
54526281(c.2441C>T),
54526500(c.2660G>A),
54547266(c.3741G>C),
3'UTR
INTRON
54504390(c.129+386A>G),
54504769(c.129+765G>A),
54504802(c.129+798G>A),
54504808(c.129+804A>G),
54504812(c.129+808C>G),
54504813(c.129+809A>T),
54504877(c.129+873C>T),
54505028(c.129+1024G>A),
54505165(c.129+1161G>A),
54505174(c.129+1170C>G),
54505277(c.129+1273T>C),
54505280(c.129+1276G>C),
54505431(c.129+1427T>C),
54505648(c.129+1644G>A),
54506161(c.129+2157G>A),
54506292(c.129+2288A>G),
54506316(c.129+2312G>A),
54506394(c.129+2390T>C),
54506407(c.129+2403G>T),
54506425(c.129+2421C>G),
54506470(c.129+2466G>A),
54507178(c.129+3174A>G),
54507369(c.129+3365A>G),
54507370(c.129+3366T>C),
54507373(c.129+3369A>T),
54507383(c.129+3379T>G),
54507472(c.129+3468A>G),
54507583(c.129+3579A>G),
54507763(c.129+3759A>G),
54507886(c.129+3882A>G),
54507961(c.129+3957A>G),
54508690(c.129+4686T>C),
54508852(c.129+4848G>A),
54508857(c.129+4853T>C),
54508999(c.129+4995C>A),
54509087(c.129+5083T>C),
54509185(c.129+5181C>G),
54509385(c.129+5381G>T),
54509406(c.129+5402G>T),
54509428(c.129+5424A>C),
54509465(c.129+5461C>T),
54509577(c.129+5573A>T),
54509603(c.129+5599C>T),
54509631(c.129+5627A>G),
54509834(c.129+5830T>A),
54509958(c.129+5954A>G),
54510000(c.129+5996G>T),
54510014(c.129+6010G>A),
54510072(c.129+6068A>G),
54510102(c.129+6098G>T),
54510116(c.129+6112A>G),
54510147(c.129+6143T>C),
54510160(c.129+6156G>A),
54510162(c.129+6158G>A),
54510206(c.129+6202T>C),
54510273(c.129+6269C>A),
54510426(c.129+6422C>T),
54510766(c.129+6762G>T),
54510883(c.129+6879A>T),
54510939(c.129+6935C>T),
54511338(c.129+7334A>G),
54511355(c.129+7351A>G),
54511406(c.129+7402G>A),
54511468(c.129+7464T>C),
54511496(c.129+7492C>T),
54511497(c.129+7493C>A),
54511596(c.129+7592A>G),
54511798(c.129+7794C>G),
54511807(c.129+7803G>A),
54511946(c.129+7942C>T),
54512043(c.129+8039C>T),
54512054(c.129+8050C>T),
54512757(c.129+8753T>C),
54512791(c.129+8787G>A),
54513002(c.129+8998C>A),
54513124(c.129+9120G>A),
54513692(c.129+9688A>T),
54513823(c.129+9819C>T),
54514266(c.130-9704A>G),
54515134(c.130-8836C>T),
54515142(c.130-8828C>T),
54515240(c.130-8730G>A),
54515500(c.130-8470G>A),
54516002(c.130-7968A>G),
54516712(c.130-7258G>A),
54517168(c.130-6802T>A),
54518378(c.130-5592T>C),
54518492(c.130-5478G>T),
54518745(c.130-5225T>A),
54518842(c.130-5128A>G),
54519073(c.130-4897T>C),
54519182(c.130-4788T>G),
54519232(c.130-4738G>A),
54519336(c.130-4634A>G),
54519362(c.130-4608A>G),
54519587(c.130-4383G>A),
54519588(c.130-4382C>G),
54519874(c.130-4096G>A),
54520040(c.130-3930C>A),
54520145(c.130-3825C>T),
54520270(c.130-3700T>G),
54520976(c.130-2994T>C),
54521203(c.130-2767T>C),
54521393(c.130-2577G>T),
54521492(c.130-2478T>C),
54522136(c.130-1834A>G),
54522190(c.130-1780G>T),
54522526(c.130-1444A>G),
54522803(c.130-1167A>C),
54522877(c.130-1093G>A),
54523305(c.130-665C>T),
54523454(c.130-516C>T),
54523519(c.130-451T>C),
54523520(c.130-450G>T),
54523521(c.130-449C>T),
54523597(c.130-373C>G),
54523709(c.130-261G>A),
54523805(c.130-165T>C),
54526928(c.2832+256G>C),
54526939(c.2832+267T>G),
54527221(c.2832+549C>T),
54527538(c.2833-766A>G),
54527950(c.2833-354G>C),
54527976(c.2833-328A>T),
54530054(c.3135+831A>G),
54530417(c.3135+1194A>G),
54530689(c.3135+1466A>G),
54531594(c.3135+2371G>C),
54531695(c.3135+2472T>C),
54532137(c.3135+2914A>G),
54532151(c.3135+2928T>C),
54532248(c.3135+3025G>A),
54532254(c.3135+3031T>C),
54533337(c.3136-3745C>T),
54533338(c.3136-3744A>C),
54533516(c.3136-3566A>G),
54533631(c.3136-3451G>A),
54533681(c.3136-3401C>T),
54533781(c.3136-3301A>C),
54533964(c.3136-3118G>A),
54534294(c.3136-2788G>C),
54534333(c.3136-2749G>A),
54534403(c.3136-2679T>G),
54534452(c.3136-2630T>G),
54534583(c.3136-2499C>T),
54534765(c.3136-2317C>A),
54535565(c.3136-1517G>C),
54535585(c.3136-1497C>T),
54536005(c.3136-1077G>A),
54536051(c.3136-1031T>C),
54536564(c.3136-518T>C),
54536580(c.3136-502C>T),
54536633(c.3136-449C>T),
54536733(c.3136-349C>T),
54536816(c.3136-266C>A),
54536919(c.3136-163C>A),
54537008(c.3136-74G>T),
54537372(c.3290+136T>C),
54537487(c.3290+251C>G),
54537623(c.3290+387T>A),
54537655(c.3290+419G>A),
54537719(c.3290+483G>A),
54537792(c.3290+556G>T),
54537926(c.3290+690G>A),
54537985(c.3290+749C>A),
54538035(c.3290+799C>T),
54538068(c.3290+832C>T),
54538140(c.3290+904A>G),
54538149(c.3290+913T>C),
54538161(c.3290+925C>T),
54538199(c.3290+963T>G),
54538287(c.3290+1051A>G),
54538731(c.3291-973G>T),
54539180(c.3291-524A>G),
54539205(c.3291-499T>C),
54539224(c.3291-480T>G),
54539364(c.3291-340G>A),
54539418(c.3291-286C>T),
54539461(c.3291-243C>T),
54539525(c.3291-179C>T),
54539896(c.3443+40A>G),
54539953(c.3443+97A>C),
54539984(c.3443+128A>G),
54540248(c.3443+392G>A),
54541094(c.3444-330T>C),
54541143(c.3444-281G>C),
54541953(c.3572+401A>G),
54542477(c.3572+925T>G),
54542523(c.3572+971A>G),
54542589(c.3572+1037A>T),
54542603(c.3572+1051T>C),
54542665(c.3572+1113T>C),
54542732(c.3572+1180C>T),
54542772(c.3572+1220G>A),
54542960(c.3572+1408C>T),
54542961(c.3572+1409A>G),
54542990(c.3572+1438A>G),
54543138(c.3572+1586T>G),
54543307(c.3572+1755G>A),
54543465(c.3572+1913C>G),
54543590(c.3572+2038C>T),
54543668(c.3572+2116T>G),
54544001(c.3572+2449A>G),
54544117(c.3572+2565T>C),
54546893(c.3573-84C>T),
54546919(c.3573-58A>C),
54547210(c.3730-45A>T),
54547360(c.3814+21A>G),
54547459(c.3814+120G>A),
54547908(c.3814+569A>C),
54547909(c.3814+570G>A),
54548006(c.3814+667C>A),
54548129(c.3814+790G>T),
54548265(c.3814+926T>C),
54548279(c.3814+940C>T),
54548682(c.3814+1343C>G),
54549142(c.3815-1241T>A),
54549182(c.3815-1201T>A),
54549204(c.3815-1179T>A),
54549242(c.3815-1141T>C),
54549421(c.3815-962A>G),
54549619(c.3815-764C>T),
+1kb
54551313(c.*680C>A),
54551552(c.*919C>T),
54551597(c.*964G>A),
54551674(c.*1041A>C),
54551711(c.*1078A>C),
54551772(c.*1139G>A),
54551907(c.*1274A>G),
54551912(c.*1279G>A),
54551918(c.*1285A>G),
54552034(c.*1401T>C),
54552178(c.*1545T>G),
54552180(c.*1547G>T),
54552329(c.*1696T>A),
54552331(c.*1698T>A),
54552339(c.*1706G>A),
54552362(c.*1729C>T),
54553394(c.*2761T>C),
54553418(c.*2785T>C),
54553530(c.*2897G>A),
54553639(c.*3006A>G),
54553652(c.*3019T>C),
54553679(c.*3046A>T),
54553681(c.*3048G>C),
54553788(c.*3155T>C),
54553865(c.*3232G>T),
54553991(c.*3358T>C),
54554002(c.*3369A>G),
54554104(c.*3471G>A),
54554120(c.*3487T>C),
54554145(c.*3512T>C),
54554160(c.*3527G>A),
54554166(c.*3533A>G),
54555653(c.*5020G>A),
54555677(c.*5044C>A),
54555685(c.*5052T>C),
54555707(c.*5074A>G),
54555718(c.*5085C>T),
54555859(c.*5226A>G),
54555929(c.*5296C>T),
54555951(c.*5318A>T),
54555952(c.*5319G>A),
54555986(c.*5353C>T),
54556120(c.*5487G>A),
54556121(c.*5488T>C),
54556136(c.*5503G>A),
54556210(c.*5577T>C),
54556238(c.*5605G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54505113 (c.129+1109_129+1110insA),
54506454 (c.129+2451_129+2452insCT),
54506736 (c.129+2732_129+2733insGATCCA),
54507499 (c.129+3495_129+3496insTTC),
54508192 (c.129+4195dupT),
54508811 (c.129+4807_129+4808insAA),
54509586 (c.129+5582_129+5583dupTT),
54511005 (c.129+7003_129+7004insGGCTCA),
54518631 (c.130-5334_130-5333insAAGAGA),
54520617 (c.130-3338_130-3335dupCAAA),
54521117 (c.130-2851dupT),
54531978 (c.3135+2756_3135+2757insTGGA),
54534153 (c.3136-2929_3136-2928insCC),
54535168 (c.3136-1906dupG),
54537330 (c.3290+93_3290+94dupTG),
54541762 (c.3572+210dupA),
54549204 (c.3815-1171dupA),
54549768 (c.3815-614_3815-613insGCCCCT),
54549943 (c.3815-438_3815-437insATA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54504314 (c.129+316delG),
54504760 (c.129+758delC),
54507237 (c.129+3234delA),
54507268 (c.129+3268delG),
54507271 (c.129+3268delG),
54507744 (c.129+3751_129+3753delAAA),
54509514 (c.129+5511delA),
54509620 (c.129+5617_129+5620delTATA),
54509789 (c.129+5786delT),
54509845 (c.129+5842_129+5844delAGG),
54510103 (c.129+6100delG),
54510166 (c.129+6163delA),
54510387 (c.129+6385delA),
54511999 (c.129+8008_129+8010delAAA),
54513959 (c.129+9963_129+9964delTT),
54514243 (c.130-9715delA),
54519662 (c.130-4305_130-4298delGTAATGGT),
54521616 (c.130-2353delT),
54521653 (c.130-2312_130-2311delAC),
54521657 (c.130-2312_130-2311delAC),
54523671 (c.130-298delG),
54523683 (c.130-286_130-285delGG),
54523721 (c.130-240delA),
54530032 (c.3135+819delA),
54530621 (c.3135+1405delG),
54530627 (c.3135+1405delG),
54530663 (c.3135+1441_3135+1446delCTTCTT),
54531557 (c.3135+2343_3135+2348delGCTTGG),
54533052 (c.3135+3830_3135+3837delACATACAT),
54534097 (c.3136-2984_3136-2974delACTCTTCCCCC),
54534953 (c.3136-2120_3136-2119delAA),
54536238 (c.3136-843_3136-839delCACAG),
54536275 (c.3136-806_3136-801delCACAGT),
54537353 (c.3290+126_3290+129delAGAG),
54537361 (c.3290+126_3290+129delAGAG),
54537810 (c.3290+584_3290+589delTATATA),
54539994 (c.3443+139_3443+141delAAG),
54540002 (c.3443+147_3443+148delGA),
54540092 (c.3443+240delG),
54540095 (c.3443+240delG),
54542556 (c.3572+1033_3572+1040delACACACAC),
54544406 (c.3573-2567_3573-2565delCTC),
54548900 (c.3815-1479_3815-1476delCCTC),
54548988 (c.3815-1394_3815-1392delCTC),
54549731 (c.3815-651_3815-649delGGG),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 18 |
| synonymous substitutions |
54525214 (p.Val458Val),
54525235 (p.Val465Val),
54547266 (p.Thr1247Thr),
|
| non-synonymous substitutions |
54524330 (p.Ile164Val),
54524985 (p.Thr382Ile),
54525014 (p.Pro392Ser),
54525017 (p.Gly393Arg),
54525021 (p.Ser394Asn),
54525132 (p.Met431Thr),
54525195 (p.Thr452Met),
54525203 (p.Pro455Ser),
54525209 (p.Gly457Ser),
54525227 (p.Gly463Arg),
54525228 (p.Gly463Glu),
54525231 (p.Gly464Asp),
54525249 (p.Arg470Lys),
54525571 (p.Met577Ile),
54525756 (p.Pro639Gln),
54525786 (p.Pro649Leu),
54526281 (p.Pro814Leu),
54526500 (p.Arg887Lys),
|
B6 transcript
(ENSMUST00000121401)
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVDFIDLTRENRARTKDRN
GLCVIDLTRNEEENRPIATLDLTLEPVASSQKEPTSLQTCTSLSGKEVMEAHEDRGSQPA
AQRIINNDPVDLDLLEENLFEGSRPPTSISQDSVYPPEPNCSSITYKGDLSFLTSLQLSS
DVSSFSSTSNQRASLPCPQQDVPCQSQGLLCPLQALSCPQTASPCPPRASSCPPQALSCP
PQALSCPSQTLQCQLQALPQPPQEVPCSTQNVPCPQQNMPSTPQGLSWHPRHTLYPYQDT
LGLPQDVPGRPQNMSYPQDVTQLQDMPWSLHDMPLSLQDVLQSLQDVPPLLGDVPPSPEV
MQLPGYVTQTSRDVIQSPAGVTQSLGSMMQSPGSVTQSLRSVMQSSGSVTQSLRSVMQSS
GSVTQSLRSVMQSSGSVMQSPGGVTQSLRSVTQSPGGVMQSPGGVMQSPRDVMQSPRDVM
QSPRDVMQSPRGVTQSLGSMMQSPGGVMQSLRSVMQSSGGVTQSLRSVMQSPGGVMQSPG
GVTQSPRGMIKSPGMMLSPGDVIQSLNSVPQSSRDRMQSAGHVPSASGDAIQSPGGMSPT
SRDRMQSPGGVSLATEDSIQLPGGVPLSSDVIQSQGGVPLSSKDRMQSPGGVPPSSGDMI
QSQGGVPQSLGDAIQSAGGVPQSSGDAIQSPGGVSLATGDSIQLPGGVPLSSGDVIQSQG
GVPRSSRDRMQSPGGVPPSSGGVIQSPGGVSPASGDAIQSPGSVLPASGDAIQSAGGVLL
ASGDAIQSPRSVPQSPSGTLRSPGNMSESLGDTPNLSGDVSNSPQALLDLARDRPKSSPN
DVQNRDTPMDISASSSSSCSANPQSRQSEFKLDKVPWLTITDSSARREKSLPQLANPGSA
QIQGQIPQVGVYNRPCLHRLKYFLRPPVHHLFFQTLIPDKDTRESKGQKLEPIPHRRLRM
VTNTIEENFPLGTVQFLMDFVSPQHYPPREIVAHIVQKILLSGSETVDVLKEAYMLLMKI
QQLHPANAKTVEWDWKLLTYVMEEEGQTLPGRVLFLRYVVQTLEDDFQQILRRQRQHLQQ
SIANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTSPRTGVLKTSSDHLSPRPN
QNKNTNQLIVCQLQRMLSIAVEVDRTPTCSSNKIAEMMFGFVLDIPERSQREMFFTTMES
HLLRCKVLEIIFLHSCETPTRLPLSLAQTLYFLNNSTSLLKCQSDKTQWQTWDELVEHLQ
FLLSSYQHVLREHLRSSVIDRKDLIIKRIKPKPQQGDDITVLDVEKQIEAFRSRLVHILG
EPLVPQLQDKVHLLKLLLFYAADLNPDTEPASEH*
|
|
MSMv4 transcript
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVDFIDLTRENRARTKDRN
GLCVIDLTRNEEENRPIATLDLTLEPVASSQKEPTSLQTCTSLSGKEVMEAHEDRGSQPA
AQRIINNDPVDLDLLEENLFEGSRPPTSISQDSVYPPEPNCSSVTYKGDLSFLTSLQLSS
DVSSFSSTSNQRASLPCPQQDVPCQSQGLLCPLQALSCPQTASPCPPRASSCPPQALSCP
PQALSCPSQTLQCQLQALPQPPQEVPCSTQNVPCPQQNMPSTPQGLSWHPRHTLYPYQDT
LGLPQDVPGRPQNMSYPQDVTQLQDMPWSLHDMPLSLQDVLQSLQDVPPLLGDVPPSPEV
MQLPGYVTQTSRDVIQSPAGVIQSLGSMMQSSRNVTQSLRSVMQSSGSVTQSLRSVMQSS
GSVTQSLRSVTQSSGSVMQSPGGVTQSLRSVMQSSGSVMQSPKDVMQSPKDVMQSPRDVM
QSPRDVMQSPRGVTQSLGSMMQSPGGVMQSLRSVMQSSGGVTQSLRSVMQSPGGVMQSPG
GVTQSPRGMIKSPGMMLSPGDVIQSLNSVPQSSRDRIQSAGHVPSASGDAIQSPGGMSPT
SRDRMQSPGGVSLATEDSIQLPGGVPLSSDVIQSQGGVQLSSKDRMQSLGGVPPSSGDMI
QSQGGVPQSLGDAIQSAGGVPQSSGDAIQSPGGVSLATGDSIQLPGGVPLSSGDVIQSQG
GVPRSSRDRMQSPGGVPPSSGGVIQSPGGVSPASGDAIQSPGSVLPASGDAIQSAGGVLL
ASGDAIQSPRSVPQSPSGTLRSPGNMSESLGDTLNLSGDVSNSPQALLDLARDRPKSSPN
DVQNRDTPMDISASSSSSCSANPQSRQSEFKLDKVPWLTITDSSARKEKSLPQLANPGSA
QIQGQIPQVGVYNRPCLHRLKYFLRPPVHHLFFQTLIPDKDTRESKGQKLEPIPHRRLRM
VTNTIEENFPLGTVQFLMDFVSPQHYPPREIVAHIVQKILLSGSETVDVLKEAYMLLMKI
QQLHPANAKTVEWDWKLLTYVMEEEGQTLPGRVLFLRYVVQTLEDDFQQILRRQRQHLQQ
SIANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTSPRTGVLKTSSDHLSPRPN
QNKNTNQLIVCQLQRMLSIAVEVDRTPTCSSNKIAEMMFGFVLDIPERSQREMFFTTMES
HLLRCKVLEIIFLHSCETPTRLPLSLAQTLYFLNNSTSLLKCQSDKTQWQTWDELVEHLQ
FLLSSYQHVLREHLRSSVIDRKDLIIKRIKPKPQQGDDITVLDVEKQIEAFRSRLVHILG
EPLVPQLQDKVHLLKLLLFYAADLNPDTEPASEH*
|
| homology | 98.75 (1355 / 1355) |
|