| Reports |
| substitution |
| cSNPs | 19 |
| Insertion | 26 |
| Deletion | 34 |
| SNPs |
+1kb
53352779(c.-4313C>T),
53352824(c.-4358T>G),
53353448(c.-4982A>G),
53353504(c.-5038A>C),
53353526(c.-5060A>G),
53353651(c.-5185C>T),
53353654(c.-5188C>T),
53353672(c.-5206C>G),
53353673(c.-5207A>G),
53353692(c.-5226G>T),
53353804(c.-5338A>G),
53353952(c.-5486C>T),
53354057(c.-5591A>G),
53354098(c.-5632A>G),
53354099(c.-5633C>G),
53354174(c.-5708T>G),
53354280(c.-5814A>G),
53354304(c.-5838G>A),
53354307(c.-5841C>T),
53354385(c.-5919A>G),
53354489(c.-6023T>G),
53354604(c.-6138C>T),
53354674(c.-6208T>C),
53354730(c.-6264A>T),
53354973(c.-6507G>C),
53354990(c.-6524A>G),
53355262(c.-6796A>T),
53355268(c.-6802A>G),
53355317(c.-6851G>A),
53355429(c.-6963A>G),
53355611(c.-7145C>T),
53355619(c.-7153A>G),
53355668(c.-7202G>C),
53355799(c.-7333C>T),
53355885(c.-7419C>A),
53355906(c.-7440A>G),
53355982(c.-7516G>T),
53356075(c.-7609A>G),
53356101(c.-7635T>C),
53356111(c.-7645G>T),
53356144(c.-7678G>T),
53356436(c.-7970T>A),
53356441(c.-7975T>C),
53356482(c.-8016A>G),
53356510(c.-8044C>T),
53356530(c.-8064A>T),
53356720(c.-8254T>G),
53356858(c.-8392T>C),
53356932(c.-8466G>A),
53357270(c.-8804G>A),
53357370(c.-8904T>G),
53357501(c.-9035G>A),
53357544(c.-9078C>T),
53357572(c.-9106A>G),
53357601(c.-9135T>G),
5'UTR
53325560(c.*1025C>T),
53325609(c.*976C>T),
53325611(c.*974A>G),
53325651(c.*934A>G),
53325661(c.*924G>T),
53325666(c.*919C>T),
53325710(c.*875T>A),
53325902(c.*683T>C),
53325904(c.*681T>C),
53326140(c.*445T>C),
53326209(c.*376A>G),
53326269(c.*316G>A),
53326316(c.*269T>C),
53326319(c.*266T>C),
53350039(c.-145C>T),
53350061(c.-167G>A),
53350892(c.-181A>G),
CDS
53330370(c.1673T>A),
53330381(c.1662T>G),
53330402(c.1641A>C),
53346669(c.1545C>T),
53346674(c.1540C>T),
53347220(c.1247A>C),
53347297(c.1170A>G),
53347305(c.1162C>A),
53347522(c.945T>C),
53347851(c.616G>A),
53347976(c.491A>C),
53347986(c.481A>G),
53348211(c.256G>A),
53348332(c.135T>C),
53348353(c.114G>A),
53348360(c.107G>A),
53348368(c.99C>T),
53348401(c.66T>C),
53348433(c.34A>G),
3'UTR
INTRON
53327399(c.*128-942T>C),
53327421(c.*128-964T>C),
53327425(c.*128-968T>A),
53327502(c.*128-1045T>C),
53327574(c.*128-1117G>A),
53327618(c.*128-1161C>T),
53327625(c.*128-1168T>G),
53327660(c.*128-1203G>C),
53327661(c.*128-1204A>C),
53327671(c.*128-1214C>A),
53329765(c.*127+447T>G),
53329788(c.*127+424C>T),
53329813(c.*127+399T>C),
53329820(c.*127+392G>A),
53329912(c.*127+300T>C),
53329916(c.*127+296G>A),
53329958(c.*127+254A>G),
53329988(c.*127+224G>A),
53330043(c.*127+169C>T),
53330088(c.*127+124A>G),
53330129(c.*127+83C>A),
53330456(c.1635-48C>T),
53330705(c.1635-297A>G),
53330718(c.1635-310A>G),
53330780(c.1635-372G>T),
53330788(c.1635-380T>C),
53330815(c.1635-407G>A),
53331015(c.1635-607A>C),
53331148(c.1635-740T>C),
53331925(c.1635-1517T>C),
53331927(c.1635-1519C>T),
53332108(c.1635-1700A>T),
53332129(c.1635-1721G>C),
53333228(c.1635-2820A>G),
53333457(c.1635-3049A>G),
53333513(c.1635-3105T>C),
53333589(c.1635-3181T>C),
53333672(c.1635-3264G>A),
53333844(c.1635-3436A>G),
53333926(c.1635-3518A>G),
53333945(c.1635-3537G>A),
53333969(c.1635-3561A>G),
53334142(c.1635-3734C>A),
53334248(c.1635-3840T>C),
53334316(c.1635-3908G>A),
53334392(c.1635-3984T>C),
53334430(c.1635-4022A>G),
53334533(c.1635-4125T>C),
53334637(c.1635-4229T>C),
53334659(c.1635-4251C>A),
53334701(c.1635-4293A>C),
53334755(c.1635-4347A>G),
53334873(c.1635-4465C>G),
53334906(c.1635-4498C>T),
53335297(c.1635-4889T>G),
53335429(c.1635-5021A>T),
53335565(c.1635-5157C>A),
53335605(c.1635-5197A>G),
53336027(c.1635-5619C>T),
53336440(c.1635-6032A>G),
53336615(c.1635-6207A>G),
53336877(c.1635-6469C>G),
53336931(c.1635-6523T>C),
53337025(c.1635-6617G>A),
53337057(c.1635-6649G>A),
53338404(c.1635-7996C>T),
53338474(c.1635-8066A>G),
53338557(c.1634+8023G>A),
53338984(c.1634+7596C>G),
53339131(c.1634+7449A>G),
53339886(c.1634+6694A>G),
53339887(c.1634+6693C>T),
53339948(c.1634+6632T>C),
53340107(c.1634+6473G>C),
53340153(c.1634+6427G>A),
53340175(c.1634+6405A>G),
53340435(c.1634+6145T>C),
53340442(c.1634+6138C>A),
53340472(c.1634+6108C>T),
53340520(c.1634+6060G>A),
53340541(c.1634+6039T>G),
53340551(c.1634+6029C>G),
53340583(c.1634+5997A>G),
53340606(c.1634+5974C>A),
53340624(c.1634+5956A>G),
53340852(c.1634+5728A>G),
53340909(c.1634+5671G>A),
53341218(c.1634+5362A>C),
53341265(c.1634+5315T>G),
53341285(c.1634+5295G>T),
53341308(c.1634+5272A>T),
53341482(c.1634+5098A>C),
53341537(c.1634+5043T>C),
53341555(c.1634+5025T>A),
53341571(c.1634+5009T>C),
53341630(c.1634+4950C>T),
53341664(c.1634+4916T>A),
53341711(c.1634+4869G>C),
53341807(c.1634+4773G>A),
53341817(c.1634+4763A>G),
53341819(c.1634+4761G>A),
53341828(c.1634+4752A>G),
53341832(c.1634+4748C>T),
53341867(c.1634+4713A>C),
53341918(c.1634+4662A>G),
53342024(c.1634+4556A>G),
53342052(c.1634+4528G>C),
53342134(c.1634+4446G>T),
53342248(c.1634+4332A>C),
53342255(c.1634+4325C>T),
53342526(c.1634+4054A>C),
53342562(c.1634+4018C>T),
53342577(c.1634+4003T>C),
53342593(c.1634+3987A>G),
53342697(c.1634+3883G>A),
53342715(c.1634+3865A>G),
53342823(c.1634+3757C>A),
53342824(c.1634+3756T>A),
53342825(c.1634+3755C>A),
53342828(c.1634+3752T>C),
53342829(c.1634+3751G>C),
53343067(c.1634+3513A>C),
53343092(c.1634+3488C>T),
53343485(c.1634+3095G>A),
53343610(c.1634+2970T>G),
53343650(c.1634+2930A>T),
53343726(c.1634+2854A>G),
53343813(c.1634+2767A>C),
53343820(c.1634+2760T>C),
53343822(c.1634+2758T>C),
53344012(c.1634+2568C>T),
53344208(c.1634+2372A>G),
53344266(c.1634+2314C>G),
53344320(c.1634+2260G>T),
53344402(c.1634+2178A>C),
53344445(c.1634+2135C>T),
53344502(c.1634+2078T>G),
53344521(c.1634+2059C>T),
53344643(c.1634+1937A>T),
53345068(c.1634+1512C>A),
53345096(c.1634+1484A>G),
53345135(c.1634+1445T>G),
53345261(c.1634+1319T>C),
53345381(c.1634+1199A>T),
53345444(c.1634+1136G>T),
53345458(c.1634+1122G>A),
53345459(c.1634+1121T>G),
53345476(c.1634+1104A>G),
53345509(c.1634+1071C>G),
53345562(c.1634+1018G>A),
53345563(c.1634+1017T>C),
53345569(c.1634+1011T>G),
53345591(c.1634+989C>T),
53345723(c.1634+857T>A),
53345727(c.1634+853C>T),
53345776(c.1634+804A>G),
53345817(c.1634+763T>A),
53345835(c.1634+745A>G),
53345901(c.1634+679G>A),
53345975(c.1634+605G>A),
53345988(c.1634+592T>C),
53346046(c.1634+534G>T),
53346320(c.1634+260A>G),
53346352(c.1634+228G>A),
53346364(c.1634+216G>T),
53346370(c.1634+210T>G),
53346398(c.1634+182T>C),
53346956(c.1452+59T>A),
53346986(c.1452+29C>T),
53348846(c.-92-288T>C),
53348947(c.-92-389A>G),
53349008(c.-92-450T>C),
53349265(c.-92-707A>G),
53349307(c.-93+680C>T),
53349416(c.-93+571C>G),
53349494(c.-93+493G>A),
53349559(c.-93+428A>G),
53349658(c.-93+329G>T),
53349734(c.-93+253A>G),
53349964(c.-93+23T>G),
53350185(c.-168-123G>A),
53350198(c.-168-136G>A),
53350220(c.-168-158T>C),
53350231(c.-168-169T>C),
53350238(c.-168-176A>G),
53350278(c.-168-216T>C),
53350364(c.-168-302T>C),
53350414(c.-168-352T>C),
53350543(c.-169+337A>T),
53350593(c.-169+287C>T),
53350611(c.-169+269A>G),
53350653(c.-169+227C>A),
53350703(c.-169+177A>C),
53350758(c.-169+122A>G),
53350762(c.-169+118T>C),
53350824(c.-169+56T>C),
53350830(c.-169+50T>C),
53350834(c.-169+46C>A),
53350980(c.-222-47C>T),
53351032(c.-222-99C>T),
53351084(c.-222-151T>C),
53351139(c.-222-206A>G),
53351341(c.-222-408G>T),
53351395(c.-222-462A>G),
53351539(c.-222-606G>A),
53351582(c.-222-649G>C),
53352115(c.-223+415T>G),
-1kb
53320518(c.*9821A>T),
53320594(c.*9745A>G),
53320728(c.*9611A>G),
53320749(c.*9590C>T),
53320817(c.*9522C>A),
53320846(c.*9493G>A),
53321061(c.*9278C>T),
53321076(c.*9263T>A),
53321161(c.*9178A>G),
53321169(c.*9170T>G),
53321428(c.*8911A>G),
53321429(c.*8910T>C),
53321480(c.*8859T>C),
53321581(c.*8758G>A),
53321677(c.*8662C>T),
53321756(c.*8583T>A),
53321947(c.*8392G>A),
53321961(c.*8378A>G),
53321983(c.*8356T>C),
53322126(c.*8213G>C),
53322219(c.*8120C>T),
53322281(c.*8058T>C),
53322388(c.*7951C>T),
53322402(c.*7937G>A),
53322463(c.*7876T>C),
53322504(c.*7835C>A),
53322524(c.*7815A>C),
53322557(c.*7782C>G),
53322699(c.*7640C>G),
53322904(c.*7435A>C),
53323119(c.*7220T>C),
53323145(c.*7194C>T),
53323180(c.*7159C>T),
53323253(c.*7086G>A),
53323334(c.*7005G>A),
53323388(c.*6951G>A),
53323456(c.*6883A>C),
53323457(c.*6882G>C),
53323486(c.*6853G>A),
53323555(c.*6784C>A),
53323567(c.*6772T>G),
53323579(c.*6760G>C),
53323654(c.*6685T>C),
53323666(c.*6673G>A),
53323667(c.*6672C>T),
53323671(c.*6668T>C),
53323787(c.*6552T>C),
53323848(c.*6491T>C),
53323996(c.*6343T>C),
53324008(c.*6331G>A),
53324036(c.*6303C>G),
53324166(c.*6173A>T),
53324338(c.*6001A>T),
53324421(c.*5918T>C),
53324426(c.*5913T>G),
53324433(c.*5906T>A),
53324741(c.*5598A>T),
53324743(c.*5596T>G),
53324744(c.*5595C>G),
53324758(c.*5581G>C),
53324764(c.*5575G>A),
53324776(c.*5563T>C),
53325067(c.*5272C>T),
53325318(c.*5021C>G),
53325476(c.*4863A>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
53329424 (c.*127+787_*127+788insCT),
53334839 (c.1635-4434_1635-4432dupTTT),
53335840 (c.1635-5433dupT),
53336057 (c.1635-5652_1635-5650dupTTT),
53337626 (c.1635-7219_1635-7218insT),
53341822 (c.1634+4757dupC),
53342985 (c.1634+3594_1634+3595insAT),
53342995 (c.1634+3584_1634+3585insCATAGAG),
53343544 (c.1634+3034_1634+3035dupCT),
53345093 (c.1634+1486_1634+1487insT),
53345097 (c.1634+1482dupT),
53346149 (c.1634+430_1634+431insTTT),
53349175 (c.-92-618_-92-617insTAAACA),
53350849 (c.-169+30_-169+31insAGTACA),
53351358 (c.-222-429_-222-426dupGTTG),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
53326536 (c.*128-83_*128-80delACTA),
53327348 (c.*128-892delT),
53327360 (c.*128-909_*128-904delACAACA),
53327797 (c.*128-1342_*128-1341delGG),
53329628 (c.*127+580_*127+583delAATA),
53338316 (c.1635-7909delA),
53339676 (c.1634+6897_1634+6903delCTATGAA),
53341098 (c.1634+5479_1634+5481delTGA),
53342378 (c.1634+4200_1634+4201delTG),
53344109 (c.1634+2468_1634+2470delTCA),
53345014 (c.1634+1562_1634+1565delAAAA),
53345083 (c.1634+1496delT),
53345292 (c.1634+1282_1634+1287delGATGAT),
53346357 (c.1634+218_1634+222delACCAC),
53346501 (c.1634+78delT),
53349402 (c.-93+582_-93+584delTGT),
53352099 (c.-223+430delT),
-1kb
53320907 (c.*9430_*9431delCA),
53321620 (c.*8718delA),
53321730 (c.*8608delT),
53322800 (c.*7534_*7538delTAAAA),
53323059 (c.*7278_*7279delAG),
53323409 (c.*6926_*6929delTACA),
53323926 (c.*6410_*6412delGAT),
53324136 (c.*6199_*6202delGCTA),
53324744 (c.*5590_*5594delTCACC),
53324986 (c.*5351_*5352delCA),
53325131 (c.*5207delC),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 9 |
| non-synonymous num | 10 |
| synonymous substitutions |
53330402 (p.Ala547Ala),
53346669 (p.Asn515Asn),
53346674 (p.Leu514Leu),
53347297 (p.Ala390Ala),
53347522 (p.Thr315Thr),
53348332 (p.Tyr45Tyr),
53348353 (p.Leu38Leu),
53348368 (p.Asn33Asn),
53348401 (p.Asp22Asp),
|
| non-synonymous substitutions |
53330370 (p.Leu558His),
53330381 (p.Phe554Leu),
53347220 (p.Asn416Thr),
53347305 (p.Pro388Thr),
53347851 (p.Asp206Asn),
53347976 (p.Tyr164Ser),
53347986 (p.Thr161Ala),
53348211 (p.Glu86Lys),
53348360 (p.Arg36Lys),
53348433 (p.Ile12Val),
|
B6 transcript
(ENSMUST00000144660)
|
MCGICCSVSFSIEHFSKELKEDLLHNLRRRGPNSSRQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWNGEVFNGVKVEAEDNDTQVMFNSLSACKNESEILLLFSKVQGPWS
FIYYQASSHHLWFGRDFFGRRSLLWQFSNLGKSFCLSSVGTQVYGVADQWQEVPASGIFQ
IDLNSAAVSRSVILKLYPWRYISKEDIAEECGNDLTQTPAGLPEFVSVVINEANLYLSKP
VVPLNKKLPESPLEIQCRNSSSTSGTRETLEVFLTDEHTKKIVQQFIAILNVSVKRRILC
LAREENLASKEVLKTCSSKANIAILFSGGVDSMVIAALADRHIPLDEPIDLLNVAFVPKQ
KTGLPIPNIERKQQNHHEIPSEESSQSPAADEGPGEAEVPDRVTGKAGLKELQSVNPSRT
WNFVEINVSLEELQKLRRARICHLVQPLDTVLDDSIGCAVWFASRGIGWLVTQDAVRSYK
SSAKVILTGIGADEQLAGYSRHRARFQSLGLEGLNEEIAMELGRISSRNLGRDDRVIGDH
GKEARFAQHVPVPFATSLTMHMLSDFC*
|
|
MSMv4 transcript
|
MCGICCSVSFSVEHFSKELKEDLLHNLRRRGPNSSKQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWNGEVFNGVKVKAEDNDTQVMFNSLSACKNESEILLLFSKVQGPWS
FIYYQASSHHLWFGRDFFGRRSLLWQFSNLGKSFCLSSVGAQVSGVADQWQEVPASGIFQ
IDLNSAAVSRSVILKLYPWRYISKENIAEECGNDLTQTPAGLPEFVSVVINEANLYLSKP
VVPLNKKLPESPLEIQCRNSSSTSGTRETLEVFLTDEHTKKIVQQFIAILNVSVKRRILC
LAREENLASKEVLKTCSSKANIAILFSGGVDSMVIAALADRHIPLDEPIDLLNVAFVPKQ
KTGLPIPNIERKQQNHHEIPSEESSQSTAADEGPGEAEVPDRVTGKAGLKELQSVTPSRT
WNFVEINVSLEELQKLRRARICHLVQPLDTVLDDSIGCAVWFASRGIGWLVTQDAVRSYK
SSAKVILTGIGADEQLAGYSRHRARFQSLGLEGLNEEIAMELGRISSRNLGRDDRVIGDH
GKEARFAQHVPVPLATSHTMHMLSDFC*
|
| homology | 98.24 (568 / 568) |
|