| Reports |
| substitution |
| cSNPs | 16 |
| Insertion | 14 |
| Deletion | 14 |
| 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),
53357738(c.-9272A>G),
53357743(c.-9277A>G),
5'UTR
CDS
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
53345068(c.1635-89C>A),
53345096(c.1635-117A>G),
53345135(c.1635-156T>G),
53345261(c.1635-282T>C),
53345381(c.1635-402A>T),
53345444(c.1635-465G>T),
53345458(c.1635-479G>A),
53345459(c.1635-480T>G),
53345476(c.1635-497A>G),
53345509(c.1635-530C>G),
53345562(c.1635-583G>A),
53345563(c.1635-584T>C),
53345569(c.1635-590T>G),
53345591(c.1635-612C>T),
53345723(c.1635-744T>A),
53345727(c.1635-748C>T),
53345776(c.1635-797A>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
53339886(c.*4844A>G),
53339887(c.*4843C>T),
53339948(c.*4782T>C),
53340107(c.*4623G>C),
53340153(c.*4577G>A),
53340175(c.*4555A>G),
53340435(c.*4295T>C),
53340442(c.*4288C>A),
53340472(c.*4258C>T),
53340520(c.*4210G>A),
53340541(c.*4189T>G),
53340551(c.*4179C>G),
53340583(c.*4147A>G),
53340606(c.*4124C>A),
53340624(c.*4106A>G),
53340852(c.*3878A>G),
53340909(c.*3821G>A),
53341218(c.*3512A>C),
53341265(c.*3465T>G),
53341285(c.*3445G>T),
53341308(c.*3422A>T),
53341482(c.*3248A>C),
53341537(c.*3193T>C),
53341555(c.*3175T>A),
53341571(c.*3159T>C),
53341630(c.*3100C>T),
53341664(c.*3066T>A),
53341711(c.*3019G>C),
53341807(c.*2923G>A),
53341817(c.*2913A>G),
53341819(c.*2911G>A),
53341828(c.*2902A>G),
53341832(c.*2898C>T),
53341867(c.*2863A>C),
53341918(c.*2812A>G),
53342024(c.*2706A>G),
53342052(c.*2678G>C),
53342134(c.*2596G>T),
53342248(c.*2482A>C),
53342255(c.*2475C>T),
53342526(c.*2204A>C),
53342562(c.*2168C>T),
53342577(c.*2153T>C),
53342593(c.*2137A>G),
53342697(c.*2033G>A),
53342715(c.*2015A>G),
53342823(c.*1907C>A),
53342824(c.*1906T>A),
53342825(c.*1905C>A),
53342828(c.*1902T>C),
53342829(c.*1901G>C),
53343067(c.*1663A>C),
53343092(c.*1638C>T),
53343485(c.*1245G>A),
53343610(c.*1120T>G),
53343650(c.*1080A>T),
53343726(c.*1004A>G),
53343813(c.*917A>C),
53343820(c.*910T>C),
53343822(c.*908T>C),
53344012(c.*718C>T),
53344208(c.*522A>G),
53344266(c.*464C>G),
53344320(c.*410G>T),
53344402(c.*328A>C),
53344445(c.*285C>T),
53344502(c.*228T>G),
53344521(c.*209C>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 8 |
| non-synonymous num | 8 |
| synonymous substitutions |
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 |
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
(ENSMUST00000027264)
|
MCGICCSVSFSIEHFSKELKEDLLHNLRRRGPNSSRQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWNGEVFNGVKVEAEDNDTQVMFNSLSACKNESEILLLFSKVQGPWS
FIYYQASSHHLWFGRDFFGRRSLLWQFSNLGKSFCLSSVGTQVYGVADQWQEVPASGIFQ
IDLNSAAVSRSVILKLYPWRYISKEDIAEECGNDLTQTPAGLPEFVSVVINEANLYLSKP
VVPLNKKLPESPLEIQCRNSSSTSGTRETLEVFLTDEHTKKIVQQFIAILNVSVKRRILC
LAREENLASKEVLKTCSSKANIAILFSGGVDSMVIAALADRHIPLDEPIDLLNVAFVPKQ
KTGLPIPNIERKQQNHHEIPSEESSQSPAADEGPGEAEVPDRVTGKAGLKELQSVNPSRT
WNFVEINVSLEELQKLRRARICHLVQPLDTVLDDSIGCAVWFASRGIGWLVTQDAVRSYK
SSAKVILTGIGADEQLAGYSRHRARFQSLGLEGLNEEIAMELGRISSRNLGRDDRVIGDH
GKEARFPFLDENVVSFLNSLPVWEKVDLTLPRGVGEKLILRLAAMELGLPASALLPKRAI
QFGSRIAKLEKSNEKASDKCGRLQILP*
|
|
MSMv4 transcript
|
MCGICCSVSFSVEHFSKELKEDLLHNLRRRGPNSSKQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWNGEVFNGVKVKAEDNDTQVMFNSLSACKNESEILLLFSKVQGPWS
FIYYQASSHHLWFGRDFFGRRSLLWQFSNLGKSFCLSSVGAQVSGVADQWQEVPASGIFQ
IDLNSAAVSRSVILKLYPWRYISKENIAEECGNDLTQTPAGLPEFVSVVINEANLYLSKP
VVPLNKKLPESPLEIQCRNSSSTSGTRETLEVFLTDEHTKKIVQQFIAILNVSVKRRILC
LAREENLASKEVLKTCSSKANIAILFSGGVDSMVIAALADRHIPLDEPIDLLNVAFVPKQ
KTGLPIPNIERKQQNHHEIPSEESSQSTAADEGPGEAEVPDRVTGKAGLKELQSVTPSRT
WNFVEINVSLEELQKLRRARICHLVQPLDTVLDDSIGCAVWFASRGIGWLVTQDAVRSYK
SSAKVILTGIGADEQLAGYSRHRARFQSLGLEGLNEEIAMELGRISSRNLGRDDRVIGDH
GKEARFPFLDENVVSFLNSLPVWEKVDLTLPRGVGEKLILRLAAMELGLPASALLPKRAI
QFGSRIAKLEKSNEKASDKCGRLQILP*
|
| homology | 98.73 (628 / 628) |
|