| Reports |
|---|
| substitution |
|---|
| cSNPs | 3 |
|---|
| Insertion | 26 |
|---|
| Deletion | 21 |
|---|
| SNPs |
-1kb
4488981(c.-26575A>G),
4489049(c.-26507C>T),
4489149(c.-26407A>G),
4489334(c.-26222G>A),
4489348(c.-26208A>G),
4489401(c.-26155C>T),
4489542(c.-26014A>G),
4489680(c.-25876C>T),
4489740(c.-25816A>C),
4489801(c.-25755C>T),
4490287(c.-25269A>G),
4490494(c.-25062A>G),
4490525(c.-25031G>A),
4490836(c.-24720C>T),
4491137(c.-24419A>T),
4491331(c.-24225A>G),
4491339(c.-24217C>T),
4491342(c.-24214T>C),
4491361(c.-24195A>G),
4491362(c.-24194T>C),
4491365(c.-24191T>C),
4491383(c.-24173T>A),
4491475(c.-24081A>G),
4491490(c.-24066G>C),
4491605(c.-23951T>C),
4492477(c.-23079A>C),
4492633(c.-22923C>T),
4492745(c.-22811C>T),
4492843(c.-22713T>C),
4493167(c.-22389C>T),
4493300(c.-22256C>T),
4493326(c.-22230A>G),
4493358(c.-22198C>G),
- 5'UTR
- CDS
- 3'UTR
- INTRON
4494296(c.-2+706G>A),
4494399(c.-2+809A>G),
4494407(c.-2+817G>C),
4494457(c.-2+867A>G),
4494539(c.-2+949C>T),
4494975(c.-2+1385C>T),
4495181(c.-2+1591C>T),
4495212(c.-2+1622C>T),
4495231(c.-2+1641G>A),
4495358(c.-2+1768C>T),
4495456(c.-2+1866C>A),
4495720(c.-2+2130A>G),
4495805(c.-2+2215T>C),
4495975(c.-2+2385C>T),
4496097(c.-2+2507T>G),
4496156(c.-2+2566A>G),
4496242(c.-2+2652A>G),
4496282(c.-2+2692G>A),
4496331(c.-2+2741A>G),
4496340(c.-2+2750T>C),
4496352(c.-2+2762G>T),
4496664(c.-2+3074C>T),
4496881(c.-2+3291A>G),
4496930(c.-2+3340G>C),
4497061(c.-2+3471C>T),
4497327(c.-2+3737C>T),
4497592(c.-2+4002C>T),
4497682(c.-2+4092G>A),
4497731(c.-2+4141A>G),
4498012(c.-2+4422G>A),
4498570(c.-2+4980A>T),
4499270(c.-2+5680A>C),
4499538(c.-2+5948T>C),
4499693(c.-2+6103A>G),
4499755(c.-2+6165T>C),
4499768(c.-2+6178T>C),
4499774(c.-2+6184T>C),
4500257(c.-2+6667G>A),
4500580(c.-2+6990C>T),
4501135(c.-2+7545A>G),
4501206(c.-2+7616C>A),
4501377(c.-2+7787A>G),
4501608(c.-2+8018A>G),
4501624(c.-2+8034C>T),
4501770(c.-2+8180G>T),
4501864(c.-2+8274C>T),
4502204(c.-2+8614G>C),
4502530(c.-2+8940T>G),
4502885(c.-2+9295T>A),
4503318(c.-2+9728T>C),
4504135(c.-2+10545T>A),
4504242(c.-2+10652G>C),
4504349(c.-2+10759T>C),
4504353(c.-2+10763T>C),
4504357(c.-2+10767T>C),
4504869(c.-1-10686A>C),
4506287(c.-1-9268G>A),
4507061(c.-1-8494C>T),
4507373(c.-1-8182T>G),
4507716(c.-1-7839T>C),
4507718(c.-1-7837A>G),
4507858(c.-1-7697C>T),
4507871(c.-1-7684A>G),
4507890(c.-1-7665C>A),
4508397(c.-1-7158A>G),
4508476(c.-1-7079T>C),
4508486(c.-1-7069T>G),
4508947(c.-1-6608G>C),
4509278(c.-1-6277T>C),
4509370(c.-1-6185T>C),
4509415(c.-1-6140G>A),
4509844(c.-1-5711A>G),
4509880(c.-1-5675C>G),
4509916(c.-1-5639T>G),
4510017(c.-1-5538A>C),
4510169(c.-1-5386T>G),
4510249(c.-1-5306G>A),
4510349(c.-1-5206G>A),
4510359(c.-1-5196C>G),
4510467(c.-1-5088G>C),
4510490(c.-1-5065T>C),
4511119(c.-1-4436C>T),
4511459(c.-1-4096C>G),
4511516(c.-1-4039A>G),
4511599(c.-1-3956T>G),
4511629(c.-1-3926A>T),
4511795(c.-1-3760A>G),
4511821(c.-1-3734C>T),
4512083(c.-1-3472A>G),
4512169(c.-1-3386G>A),
4512252(c.-1-3303C>T),
4512286(c.-1-3269T>C),
4512559(c.-1-2996A>G),
4512835(c.-1-2720C>T),
4512893(c.-1-2662C>T),
4512899(c.-1-2656C>T),
4512963(c.-1-2592A>G),
4513095(c.-1-2460G>A),
4513140(c.-1-2415T>G),
4513157(c.-1-2398G>C),
4513236(c.-1-2319A>G),
4513325(c.-1-2230G>A),
4513415(c.-1-2140A>T),
4513448(c.-1-2107G>T),
4513485(c.-1-2070G>A),
4513502(c.-1-2053C>T),
4513574(c.-1-1981G>A),
4513628(c.-1-1927G>A),
4513813(c.-1-1742T>C),
4513816(c.-1-1739A>G),
4514762(c.-1-793T>G),
4514785(c.-1-770T>C),
4515100(c.-1-455T>G),
4515131(c.-1-424G>T),
4515474(c.-1-81T>C),
4515480(c.-1-75T>C),
4515487(c.-1-68T>C),
4515776(c.173+48A>G),
4515966(c.173+238C>T),
4515990(c.173+262A>G),
4515992(c.173+264T>C),
4516011(c.173+283G>A),
4516029(c.173+301A>C),
4516102(c.173+374T>C),
4516288(c.173+560T>C),
4516291(c.173+563A>G),
4516308(c.174-565A>G),
4516428(c.174-445T>A),
4516612(c.174-261T>A),
4516675(c.174-198A>G),
4516775(c.174-98G>A),
4516997(c.291+7C>T),
4517099(c.291+109A>T),
4517102(c.291+112G>C),
4517184(c.291+194G>C),
4517204(c.291+214T>C),
4517228(c.291+238C>T),
4517230(c.291+240G>T),
4517239(c.291+249A>G),
4517255(c.291+265T>A),
4517267(c.291+277C>T),
4517336(c.291+346C>T),
4517361(c.291+371G>A),
4517416(c.291+426G>A),
4517419(c.291+429A>C),
4517425(c.291+435T>C),
4517437(c.291+447T>C),
4517458(c.291+468T>A),
4517470(c.291+480G>T),
4517586(c.291+596G>T),
4517747(c.292-493G>T),
4517793(c.292-447C>G),
4517813(c.292-427C>A),
4517840(c.292-400A>T),
4517896(c.292-344C>T),
4517954(c.292-286G>A),
4518095(c.292-145G>A),
4518217(c.292-23T>C),
4518370(c.410+12G>A),
4518391(c.410+33T>G),
4518684(c.468+24G>T),
4518698(c.468+38T>C),
4519654(c.519+141C>T),
4519706(c.519+193T>C),
4519913(c.520-303C>T),
4519914(c.520-302C>T),
4520056(c.520-160C>T),
4520354(c.612+46T>A),
4520355(c.612+47G>T),
4520476(c.612+168C>T),
4520537(c.612+229C>A),
4520580(c.612+272T>C),
4520638(c.612+330G>A),
4520742(c.612+434A>G),
4520755(c.612+447T>C),
4520805(c.612+497C>G),
4520860(c.612+552G>T),
4520879(c.612+571C>T),
4521069(c.612+761T>C),
4521077(c.612+769A>T),
4521100(c.612+792A>G),
4521138(c.612+830C>T),
4521139(c.612+831A>G),
4521165(c.612+857A>T),
4521236(c.612+928T>C),
4521396(c.612+1088C>G),
4521427(c.612+1119T>A),
4521647(c.612+1339C>A),
4521655(c.612+1347A>G),
4521697(c.612+1389A>G),
4521834(c.613-1520A>G),
4521967(c.613-1387C>T),
4521989(c.613-1365T>C),
4522019(c.613-1335G>A),
4522125(c.613-1229G>A),
4522358(c.613-996G>A),
4522413(c.613-941A>G),
4522635(c.613-719A>G),
4522648(c.613-706G>A),
4522654(c.613-700A>G),
4522881(c.613-473A>G),
4522898(c.613-456G>A),
4522901(c.613-453A>G),
4522911(c.613-443A>G),
4523217(c.613-137G>C),
4523291(c.613-63C>T),
4523539(c.*133+29C>T),
4523541(c.*133+31G>A),
4523575(c.*134-29C>T),
-
+1kb
4523710(c.*333T>C),
4523830(c.*453A>G),
4523979(c.*602T>C),
4524087(c.*710A>C),
4524140(c.*763T>G),
4524290(c.*913C>G),
4524370(c.*993T>C),
4524392(c.*1015A>G),
4524457(c.*1080T>G),
4524495(c.*1118A>G),
4524599(c.*1222T>C),
4524847(c.*1470T>G),
4524974(c.*1597A>G),
4525039(c.*1662T>C),
4525065(c.*1688G>A),
4525207(c.*1830A>G),
4525250(c.*1873G>A),
4525259(c.*1882A>C),
4525288(c.*1911C>G),
4525484(c.*2107G>A),
4525557(c.*2180C>T),
4525677(c.*2300C>T),
4525679(c.*2302A>G),
4525704(c.*2327T>C),
4525736(c.*2359T>C),
4525802(c.*2425A>G),
4525852(c.*2475G>A),
4525918(c.*2541A>G),
4525936(c.*2559C>T),
4526024(c.*2647C>A),
4526038(c.*2661A>G),
4526059(c.*2682C>T),
4526079(c.*2702T>C),
4526092(c.*2715T>A),
4526102(c.*2725G>A),
4526118(c.*2741T>C),
4526132(c.*2755C>T),
4527078(c.*3701A>G),
4527132(c.*3755G>C),
4527219(c.*3842C>T),
4527518(c.*4141C>T),
4527556(c.*4179G>A),
4527701(c.*4324T>C),
4527958(c.*4581G>C),
4528114(c.*4737T>C),
4528117(c.*4740A>G),
4528118(c.*4741T>C),
4528158(c.*4781C>T),
4528173(c.*4796T>C),
4528197(c.*4820T>G),
4528309(c.*4932A>T),
4528411(c.*5034C>T),
4528477(c.*5100G>T),
4528648(c.*5271T>C),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
4494407 (c.-2+818dupT),
4494707 (c.-2+1130_-2+1131dupGT),
4495206 (c.-2+1616_-2+1617insC),
4495524 (c.-2+1939dupG),
4496450 (c.-2+2864dupC),
4502016 (c.-2+8428_-2+8429insAGGCTC),
4502185 (c.-2+8595_-2+8596insTGCC),
4507290 (c.-1-8259dupA),
4509184 (c.-1-6371dupC),
4510072 (c.-1-5477dupG),
4510894 (c.-1-4661_-1-4660insG),
4511998 (c.-1-3551dupG),
4513610 (c.-1-1945_-1-1944insA),
4517142 (c.291+152_291+153insGG),
4522114 (c.613-1236dupG),
4522576 (c.613-780_613-778dupAAG),
4522855 (c.613-499_613-498insA),
4522858 (c.613-496_613-495insAA),
4523064 (c.613-289_613-287dupGTC),
4523570 (c.*134-33_*134-32insTT),
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
4494697 (c.-2+1116_-2+1129delACGTGTGTGTGTGT),
4498528 (c.-2+4939delC),
4499661 (c.-2+6077_-2+6079delTCT),
4500124 (c.-2+6535delC),
4502953 (c.-2+9386_-2+9387delGT),
4507138 (c.-1-8414delC),
4508312 (c.-1-7231_-1-7230delCT),
4509043 (c.-1-6505delC),
4510261 (c.-1-5292delG),
4511295 (c.-1-4259_-1-4258delTG),
4513341 (c.-1-2213delA),
4517099 (c.291+110delC),
4517168 (c.291+183delC),
4517172 (c.291+184_291+185delAC),
4522601 (c.613-751_613-748delAGTG),
4522737 (c.613-616_613-614delAGG),
4522817 (c.613-536delA),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 3 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
4518242 (p.Thr98Thr),
4519472 (p.Leu160Leu),
4520296 (p.Asp200Asp),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000176130)
|
MSFSLSEWLWQETYWLPPNVTWAELEDRDGLVFAHPHHVLAAFPVALVLVAVRIVFERFV
ALPLSRWMGVQDPIRRKIKPNPVLEKYFLRMKQCPEETQMVLLASQCGLTLRQTQRWFRR
RRNQDRPSLSKKFCEACWRFVFYLCSFVGGTSILYHESWLWSPSLCWENYPHQTLNLSLY
WWYLLELGFYLSLLITLPFDVKRKGHLHVCV*
|
|
MSMv4 transcript
|
MSFSLSEWLWQETYWLPPNVTWAELEDRDGLVFAHPHHVLAAFPVALVLVAVRIVFERFV
ALPLSRWMGVQDPIRRKIKPNPVLEKYFLRMKQCPEETQMVLLASQCGLTLRQTQRWFRR
RRNQDRPSLSKKFCEACWRFVFYLCSFVGGTSILYHESWLWSPSLCWENYPHQTLNLSLY
WWYLLELGFYLSLLITLPFDVKRKGHLHVCV*
|
| homology | 100.00 (212 / 212) |
|---|
|
