| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 18 |
| Deletion | 24 |
| SNPs |
+1kb
4785808(c.-131G>T),
4785810(c.-133G>C),
4785822(c.-145T>C),
4785848(c.-171A>C),
4785907(c.-230A>C),
4785916(c.-239A>G),
4785930(c.-253G>T),
4785931(c.-254A>T),
4785963(c.-286G>A),
4785967(c.-290T>C),
4785996(c.-319T>C),
4786041(c.-364C>T),
4786162(c.-485T>G),
4786205(c.-528G>A),
4786358(c.-681A>G),
4786398(c.-721G>A),
4786400(c.-723A>G),
4786480(c.-803C>A),
4786522(c.-845T>C),
4786532(c.-855A>G),
4786591(c.-914G>C),
4786596(c.-919G>T),
4786597(c.-920G>T),
4786685(c.-1008T>G),
4786703(c.-1026A>C),
4786708(c.-1031T>C),
4786730(c.-1053C>G),
4786760(c.-1083T>C),
4786780(c.-1103G>A),
4786893(c.-1216T>C),
4786913(c.-1236A>G),
4786942(c.-1265A>C),
4787002(c.-1325A>G),
4787027(c.-1350T>C),
4787042(c.-1365G>A),
4787043(c.-1366T>C),
4787050(c.-1373C>T),
4787133(c.-1456T>C),
4787142(c.-1465T>C),
4787222(c.-1545T>A),
4787308(c.-1631G>C),
4787314(c.-1637G>C),
4787379(c.-1702T>C),
4787391(c.-1714G>A),
4787472(c.-1795G>A),
4787502(c.-1825A>G),
4787632(c.-1955T>C),
4787792(c.-2115T>C),
4788009(c.-2332A>G),
4788018(c.-2341G>A),
4788163(c.-2486G>A),
4788190(c.-2513C>T),
4788217(c.-2540C>T),
4788245(c.-2568C>G),
4788249(c.-2572G>C),
4788343(c.-2666G>A),
4788367(c.-2690A>G),
4788432(c.-2755C>T),
4788440(c.-2763C>T),
4788665(c.-2988G>A),
4788996(c.-3319A>T),
4789002(c.-3325C>T),
4789487(c.-3810T>C),
4789511(c.-3834G>A),
4789794(c.-4117T>C),
4789799(c.-4122C>T),
4789823(c.-4146T>A),
4789919(c.-4242G>T),
4790025(c.-4348T>C),
5'UTR
CDS
3'UTR
4773215(c.*1237A>G),
4773259(c.*1193A>T),
4773278(c.*1174C>A),
4773285(c.*1167T>C),
4773446(c.*1006C>T),
4773461(c.*991C>T),
4773503(c.*949T>C),
4773567(c.*885A>G),
4773612(c.*840A>G),
4773714(c.*738G>A),
4773771(c.*681A>G),
4773772(c.*680C>G),
4773809(c.*643C>A),
4773851(c.*601G>T),
4773856(c.*596T>C),
4773860(c.*592T>G),
4773944(c.*508T>A),
4773972(c.*480C>T),
4773987(c.*465A>T),
4774188(c.*264T>C),
4774255(c.*197T>A),
4774257(c.*195A>G),
4774289(c.*163C>A),
INTRON
4774596(c.551-80C>A),
4774788(c.551-272C>T),
4774797(c.551-281A>C),
4774798(c.551-282T>G),
4774823(c.551-307G>T),
4774933(c.551-417A>T),
4774955(c.551-439G>C),
4775089(c.551-573C>T),
4775531(c.551-1015A>G),
4775582(c.551-1066T>G),
4775686(c.551-1170G>A),
4775803(c.551-1287T>C),
4775834(c.551-1318T>C),
4775843(c.551-1327G>A),
4775844(c.551-1328G>A),
4775921(c.551-1405C>T),
4775973(c.551-1457G>C),
4776346(c.550+1179A>G),
4776569(c.550+956G>A),
4776734(c.550+791T>C),
4776835(c.550+690T>C),
4776870(c.550+655C>T),
4776890(c.550+635A>C),
4776916(c.550+609C>T),
4776980(c.550+545A>C),
4776999(c.550+526C>T),
4777026(c.550+499C>T),
4777040(c.550+485G>A),
4777264(c.550+261A>G),
4777333(c.550+192T>C),
4777344(c.550+181C>G),
4777422(c.550+103T>C),
4777732(c.427-84G>A),
4777820(c.427-172G>A),
4777943(c.427-295T>C),
4777985(c.427-337C>A),
4778137(c.427-489C>A),
4778147(c.427-499C>T),
4778239(c.427-591A>G),
4778308(c.427-660G>A),
4778312(c.427-664T>A),
4778628(c.427-980T>G),
4779283(c.427-1635T>C),
4779301(c.427-1653C>G),
4779339(c.427-1691G>A),
4779510(c.427-1862C>T),
4780462(c.426+2106T>C),
4780612(c.426+1956G>A),
4780868(c.426+1700A>G),
4781072(c.426+1496A>G),
4781549(c.426+1019T>C),
4781579(c.426+989G>A),
4781583(c.426+985T>C),
4781613(c.426+955G>A),
4781627(c.426+941T>C),
4781628(c.426+940A>C),
4781667(c.426+901T>G),
4781681(c.426+887G>A),
4781684(c.426+884A>G),
4781735(c.426+833T>G),
4781752(c.426+816A>G),
4781810(c.426+758G>A),
4781832(c.426+736A>C),
4781866(c.426+702A>C),
4781942(c.426+626G>C),
4781992(c.426+576A>G),
4781995(c.426+573T>C),
4782018(c.426+550C>G),
4782162(c.426+406C>G),
4782417(c.426+151C>T),
4782795(c.261-62G>A),
4782880(c.261-147G>A),
4783286(c.261-553T>C),
4783354(c.260+597T>C),
4783488(c.260+463C>A),
4783797(c.260+154A>G),
4783913(c.260+38T>G),
4784562(c.106-457G>A),
4785033(c.105+540G>A),
4785125(c.105+448A>T),
4785263(c.105+310G>T),
4785288(c.105+285C>T),
4785430(c.105+143C>A),
4785451(c.105+122T>C),
-1kb
4768367(c.*6085G>A),
4768369(c.*6083T>G),
4768426(c.*6026G>A),
4768590(c.*5862T>C),
4768595(c.*5857C>T),
4768822(c.*5630T>C),
4768853(c.*5599T>A),
4768869(c.*5583G>T),
4768887(c.*5565T>C),
4768928(c.*5524G>A),
4768949(c.*5503T>C),
4768980(c.*5472G>A),
4768994(c.*5458A>T),
4769030(c.*5422A>C),
4769425(c.*5027T>A),
4769532(c.*4920T>A),
4769562(c.*4890T>C),
4769951(c.*4501C>T),
4770080(c.*4372T>C),
4770195(c.*4257C>T),
4770323(c.*4129A>C),
4770391(c.*4061A>G),
4770425(c.*4027A>G),
4770446(c.*4006T>C),
4770489(c.*3963C>T),
4770914(c.*3538T>C),
4771274(c.*3178T>C),
4771522(c.*2930C>T),
4771685(c.*2767G>A),
4771698(c.*2754A>C),
4771753(c.*2699C>G),
4771942(c.*2510G>C),
4771946(c.*2506A>G),
4772086(c.*2366C>T),
4772090(c.*2362G>C),
4772202(c.*2250G>A),
4772295(c.*2157G>A),
4772323(c.*2129C>G),
4772769(c.*1683G>A),
4772770(c.*1682T>C),
4772840(c.*1612C>T),
4772940(c.*1512T>C),
4773004(c.*1448G>A),
4773034(c.*1418G>C),
4773080(c.*1372T>C),
4773116(c.*1336G>A),
4773119(c.*1333T>C),
4773121(c.*1331C>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
4768280 (c.*6166_*6171delAAGAAG),
4768338 (c.*6110_*6113delTTTT),
4768482 (c.*5964_*5969delGTTTTT),
4769276 (c.*5172_*5175delTTTT),
4769787 (c.*4664delA),
4769791 (c.*4660delA),
4770099 (c.*4352delA),
4770103 (c.*4348delA),
4770997 (c.*3449_*3454delGACAGA),
4772644 (c.*1807delT),
4772649 (c.*1802delT),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 0 |
| non-synonymous num | 1 |
| synonymous substitutions |
|
| non-synonymous substitutions |
4774472 (p.Tyr199His),
|
B6 transcript
(ENSMUST00000130201)
|
MAGTARGCGTSLDLLRSLPRVSLANLKPSPNSRKRERRPRDRRRGRKCGRGHKGERQRGT
RPRLGFEGGQTPFYIRIPKYGFNEGHSFRHQYQPLSLRRLQYLIDLGRVDPTQPIDLTQL
VNGRGVTIQPLKRDYGVQLVEEGADTFQAKINIEVQLASELAIAAIEKNGGVVTTAFYDP
RSLGHLMHSSDFHGFSARYSIHIK*
|
|
MSMv4 transcript
|
MAGTARGCGTSLDLLRSLPRVSLANLKPSPNSRKRERRPRDRRRGRKCGRGHKGERQRGT
RPRLGFEGGQTPFYIRIPKYGFNEGHSFRHQYQPLSLRRLQYLIDLGRVDPTQPIDLTQL
VNGRGVTIQPLKRDYGVQLVEEGADTFQAKINIEVQLASELAIAAIEKNGGVVTTAFYDP
RSLGHLMHSSDFHGFSARHSIHIK*
|
| homology | 99.51 (205 / 205) |
|