Reports |
substitution |
cSNPs | 5 |
Insertion | 19 |
Deletion | 24 |
SNPs |
-1kb
43780143(c.-5071A>T),
43780185(c.-5029A>T),
43780218(c.-4996C>T),
43780237(c.-4977T>C),
43780240(c.-4974C>T),
43780332(c.-4882C>T),
43780367(c.-4847A>G),
43780571(c.-4643A>G),
43780672(c.-4542A>T),
43780708(c.-4506C>T),
43780830(c.-4384G>A),
43780854(c.-4360C>T),
43780862(c.-4352C>T),
43780872(c.-4342C>T),
43781015(c.-4199A>T),
43781020(c.-4194T>A),
43781029(c.-4185G>A),
43781033(c.-4181A>G),
43781081(c.-4133T>C),
43781169(c.-4045A>T),
43781287(c.-3927T>C),
43781303(c.-3911G>T),
43781325(c.-3889T>C),
43781338(c.-3876A>G),
43781339(c.-3875T>C),
43781407(c.-3807G>A),
43781450(c.-3764C>T),
43781619(c.-3595A>C),
43781660(c.-3554C>T),
43781675(c.-3539T>C),
43781742(c.-3472G>A),
43781789(c.-3425T>C),
43781790(c.-3424G>A),
43781821(c.-3393C>T),
43781839(c.-3375T>C),
43781841(c.-3373C>A),
43781850(c.-3364G>A),
43781900(c.-3314A>G),
43781907(c.-3307G>A),
43781943(c.-3271G>C),
43781981(c.-3233C>A),
43782014(c.-3200T>C),
43782066(c.-3148T>G),
43782092(c.-3122C>T),
43782093(c.-3121A>G),
43782098(c.-3116A>G),
43782104(c.-3110C>A),
43782144(c.-3070C>T),
43782166(c.-3048C>A),
43782205(c.-3009C>T),
43782216(c.-2998T>C),
43782249(c.-2965C>T),
43782269(c.-2945C>T),
43782304(c.-2910G>C),
43782356(c.-2858G>A),
43782384(c.-2830G>T),
43782583(c.-2631G>A),
43782617(c.-2597C>T),
43782627(c.-2587A>G),
43782640(c.-2574T>C),
43782647(c.-2567T>C),
43782756(c.-2458A>G),
43782760(c.-2454C>T),
43782781(c.-2433C>T),
43782823(c.-2391C>T),
43782837(c.-2377G>A),
43782882(c.-2332A>T),
43782966(c.-2248T>C),
43782987(c.-2227G>A),
43782990(c.-2224C>T),
43783016(c.-2198C>A),
43783124(c.-2090A>G),
43783149(c.-2065G>A),
43783183(c.-2031G>C),
43783195(c.-2019T>C),
43783296(c.-1918G>A),
43783327(c.-1887C>T),
43783340(c.-1874A>G),
43783536(c.-1678A>G),
43783542(c.-1672C>T),
43783574(c.-1640T>C),
43783717(c.-1497C>T),
43783832(c.-1382G>A),
43783875(c.-1339T>C),
43783894(c.-1320G>A),
43784102(c.-1112C>T),
43784180(c.-1034C>T),
43784256(c.-958G>A),
43784258(c.-956A>G),
43784480(c.-734A>G),
43784527(c.-687A>C),
43784559(c.-655T>A),
43784573(c.-641C>G),
43784588(c.-626T>C),
43784593(c.-621G>A),
43784778(c.-436T>A),
43784908(c.-306G>A),
43784966(c.-248G>T),
43784974(c.-240G>A),
43785011(c.-203G>C),
43785031(c.-183T>C),
5'UTR
CDS
3'UTR
INTRON
43785293(c.37+43C>G),
43785548(c.159+81T>C),
43785848(c.159+381G>A),
43785907(c.159+440T>A),
43785958(c.159+491T>C),
43786423(c.159+956G>T),
43786489(c.159+1022A>G),
43786606(c.159+1139C>T),
43786717(c.159+1250T>C),
43786967(c.159+1500C>T),
43787023(c.159+1556A>G),
43787152(c.159+1685A>T),
43787173(c.159+1706C>T),
43787311(c.159+1844G>A),
43787313(c.159+1846G>A),
43787315(c.159+1848G>A),
43787502(c.159+2035A>G),
43787556(c.159+2089G>C),
43787569(c.159+2102G>A),
43787646(c.159+2179C>T),
43787650(c.159+2183C>T),
43787654(c.159+2187C>T),
43787867(c.159+2400A>C),
43787951(c.159+2484G>A),
43788194(c.159+2727G>C),
43788338(c.159+2871C>T),
43788421(c.159+2954A>C),
43788793(c.159+3326G>A),
43788869(c.159+3402T>C),
43789557(c.159+4090C>T),
43789565(c.159+4098C>T),
43789582(c.159+4115G>A),
43789593(c.159+4126C>T),
43789642(c.159+4175T>A),
43789664(c.159+4197A>G),
43789747(c.159+4280T>C),
43789834(c.159+4367C>T),
43789852(c.159+4385T>C),
43789999(c.159+4532C>T),
43790100(c.159+4633T>C),
43790117(c.159+4650G>T),
43790598(c.159+5131T>C),
43791327(c.159+5860C>T),
43791361(c.159+5894C>G),
43791450(c.159+5983C>T),
43791601(c.160-5932A>G),
43791687(c.160-5846C>T),
43791724(c.160-5809C>T),
43791977(c.160-5556G>C),
43791995(c.160-5538A>G),
43792260(c.160-5273A>C),
43792261(c.160-5272G>A),
43792384(c.160-5149G>A),
43792445(c.160-5088C>T),
43792545(c.160-4988C>T),
43792553(c.160-4980C>T),
43792606(c.160-4927G>A),
43792758(c.160-4775G>A),
43793106(c.160-4427T>C),
43793113(c.160-4420T>C),
43793257(c.160-4276G>A),
43793691(c.160-3842A>G),
43793741(c.160-3792C>T),
43793825(c.160-3708A>G),
43793835(c.160-3698A>G),
43793942(c.160-3591G>A),
43793986(c.160-3547G>A),
43793989(c.160-3544A>C),
43794020(c.160-3513A>G),
43794044(c.160-3489T>C),
43794045(c.160-3488C>T),
43794084(c.160-3449C>T),
43794179(c.160-3354T>G),
43794228(c.160-3305T>C),
43794380(c.160-3153A>G),
43794405(c.160-3128G>A),
43794556(c.160-2977A>G),
43794689(c.160-2844G>A),
43794700(c.160-2833G>A),
43794722(c.160-2811G>A),
43794808(c.160-2725A>G),
43794832(c.160-2701A>G),
43795039(c.160-2494G>A),
43795070(c.160-2463C>T),
43795121(c.160-2412A>G),
43795168(c.160-2365C>T),
43795210(c.160-2323C>A),
43795484(c.160-2049T>C),
43795542(c.160-1991G>A),
43795599(c.160-1934G>A),
43795960(c.160-1573T>A),
43795971(c.160-1562G>T),
43795982(c.160-1551T>A),
43796014(c.160-1519C>T),
43796105(c.160-1428T>C),
43796229(c.160-1304A>G),
43796272(c.160-1261C>T),
43796306(c.160-1227C>A),
43796317(c.160-1216C>G),
43796424(c.160-1109C>T),
43796426(c.160-1107T>C),
43796429(c.160-1104A>C),
43796430(c.160-1103C>A),
43796475(c.160-1058C>T),
43796508(c.160-1025C>G),
43796524(c.160-1009A>G),
43796561(c.160-972G>A),
43796587(c.160-946C>T),
43796810(c.160-723C>G),
43796856(c.160-677C>G),
43796880(c.160-653C>T),
43796909(c.160-624G>C),
43796977(c.160-556A>G),
43796980(c.160-553A>G),
43796991(c.160-542G>C),
43797033(c.160-500T>C),
43797045(c.160-488T>C),
43797116(c.160-417T>C),
43797320(c.160-213T>C),
43797392(c.160-141A>G),
43797394(c.160-139C>T),
43797472(c.160-61G>A),
43797757(c.355+29A>T),
43797758(c.355+30C>T),
43797969(c.355+241A>C),
43798202(c.355+474T>C),
43798232(c.355+504A>G),
43798239(c.355+511T>C),
43798243(c.355+515G>A),
43798245(c.355+517A>G),
43798280(c.355+552G>A),
43798462(c.355+734G>A),
43798508(c.355+780T>C),
43798533(c.355+805G>A),
43798557(c.355+829C>T),
43798564(c.355+836A>G),
43798622(c.355+894C>T),
43798724(c.356-878G>A),
43798768(c.356-834A>G),
43798807(c.356-795A>G),
43798916(c.356-686T>C),
43798917(c.356-685G>T),
43798980(c.356-622C>T),
43798983(c.356-619G>C),
43798994(c.356-608C>T),
43799015(c.356-587T>C),
43799031(c.356-571C>T),
43799035(c.356-567T>C),
43799040(c.356-562A>G),
43799270(c.356-332A>T),
43799375(c.356-227T>G),
43799389(c.356-213A>G),
43799415(c.356-187T>A),
43799547(c.356-55A>G),
43799909(c.462+201T>C),
43800080(c.462+372T>C),
43800253(c.462+545G>T),
43800381(c.462+673C>T),
43800432(c.462+724C>T),
43800843(c.463-714A>T),
43800844(c.463-713G>C),
43800900(c.463-657C>T),
43801255(c.463-302C>T),
43801293(c.463-264T>C),
43801501(c.463-56C>A),
+1kb
43803141(c.*1456T>G),
43803185(c.*1500G>T),
43803278(c.*1593T>G),
43803393(c.*1708G>A),
43803433(c.*1748G>C),
43803487(c.*1802A>G),
43803648(c.*1963T>C),
43803782(c.*2097C>T),
43803807(c.*2122G>T),
43803852(c.*2167T>A),
43803947(c.*2262T>C),
43803967(c.*2282C>T),
43803968(c.*2283T>A),
43804011(c.*2326C>G),
43804019(c.*2334G>T),
43804025(c.*2340C>T),
43804063(c.*2378C>A),
43804069(c.*2384A>G),
43804257(c.*2572A>G),
43804688(c.*3003G>A),
43804731(c.*3046G>A),
43804794(c.*3109A>C),
43804828(c.*3143T>A),
43804904(c.*3219T>C),
43804913(c.*3228T>C),
43805013(c.*3328A>G),
43805060(c.*3375C>T),
43805151(c.*3466G>A),
43805241(c.*3556G>T),
43805481(c.*3796C>A),
43805510(c.*3825C>T),
43805536(c.*3851G>A),
43805553(c.*3868T>G),
43805616(c.*3931A>G),
43805774(c.*4089A>G),
43805817(c.*4132A>G),
43805822(c.*4137A>T),
43805824(c.*4139T>C),
43805825(c.*4140G>T),
43805835(c.*4150G>T),
43806000(c.*4315G>A),
43806005(c.*4320G>A),
43806162(c.*4477C>G),
43806164(c.*4479G>C),
43806291(c.*4606A>G),
43806292(c.*4607T>G),
43806293(c.*4608G>T),
43806337(c.*4652A>G),
43806339(c.*4654G>T),
43806566(c.*4881C>T),
43806597(c.*4912G>A),
43806726(c.*5041C>T),
43806729(c.*5044A>G),
43806733(c.*5048G>C),
43806749(c.*5064G>A),
43806799(c.*5114T>C),
43806939(c.*5254G>A),
43806965(c.*5280G>C),
43807286(c.*5601C>A),
43807388(c.*5703C>G),
43807759(c.*6074C>T),
43807826(c.*6141A>T),
43807881(c.*6196C>A),
43808045(c.*6360C>T),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
43787713 (c.159+2247_159+2248insTGGG),
43788067 (c.159+2604dupG),
43789559 (c.159+4092_159+4093insA),
43789687 (c.159+4220_159+4221insC),
43789987 (c.159+4521dupA),
43792335 (c.160-5198_160-5197insGTTTGTTTT),
43792957 (c.160-4570dupA),
43795663 (c.160-1863dupC),
43796130 (c.160-1401dupG),
43796193 (c.160-1340_160-1339insA),
43797230 (c.160-303_160-302insT),
43797786 (c.355+59_355+60insAA),
43798649 (c.355+922_355+925dupAGAC),
43798985 (c.356-616dupG),
43801013 (c.463-544dupT),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
43786456 (c.159+995delG),
43787293 (c.159+1846_159+1851delGAGAGA),
43787629 (c.159+2163_159+2166delTCTT),
43789687 (c.159+4221delA),
43792254 (c.160-5278_160-5275delTAGT),
43792510 (c.160-5012_160-5009delTGTG),
43793289 (c.160-4224_160-4218delATAAAAA),
43794793 (c.160-2739delC),
43796386 (c.160-1135delA),
43798154 (c.355+427_355+428delAT),
43801069 (c.463-487_463-486delTT),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 2 |
non-synonymous num | 3 |
synonymous substitutions |
43801667 (p.Pro191Pro),
43801679 (p.Thr195Thr),
|
non-synonymous substitutions |
43785238 (p.Phe9Leu),
43797567 (p.Pro65Leu),
43799617 (p.Ala124Val),
|
B6 transcript
(ENSMUST00000015540)
|
MSQGLQLLFLGCACSLAPAMAMREVTVACSETADLPCTAPWDPQLSYAVSWAKVSESGTE
SVELPESKQNSSFEAPRRRAYSLTIQNTTICSSGTYRCALQELGGQRNLSGTVVLKVTGC
PKEATESTFRKYRAEAVLLFSLVVFYLTLIIFTCKFARLQSIFPDISKPGTEQAFLPVTS
PSKHLGPVTLPKTETV*
|
MSMv4 transcript
|
MSQGLQLLLLGCACSLAPAMAMREVTVACSETADLPCTAPWDPQLSYAVSWAKVSESGTE
SVELLESKQNSSFEAPRRRAYSLTIQNTTICSSGTYRCALQELGGQRNLSGTVVLKVTGC
PKEVTESTFRKYRAEAVLLFSLVVFYLTLIIFTCKFARLQSIFPDISKPGTEQAFLPVTS
PSKHLGPVTLPKTETV*
|
homology | 98.48 (197 / 197) |
|