| Reports |
| substitution |
| cSNPs | 6 |
| Insertion | 14 |
| Deletion | 12 |
| SNPs |
-1kb
55588491(c.-4683T>A),
55588492(c.-4682T>A),
55588534(c.-4640T>G),
55588723(c.-4451G>A),
55588874(c.-4300C>T),
55589043(c.-4131G>T),
55589091(c.-4083T>C),
55589159(c.-4015C>G),
55589175(c.-3999A>G),
55589375(c.-3799A>T),
55589393(c.-3781T>C),
55591206(c.-1968T>C),
55592923(c.-251G>C),
5'UTR
CDS
3'UTR
INTRON
55594553(c.286-152T>C),
55594854(c.411+24A>G),
55595246(c.412-222A>G),
55595322(c.412-146G>A),
55595368(c.412-100A>C),
55595413(c.412-55C>G),
55595426(c.412-42C>T),
55595863(c.558+249C>T),
55596022(c.558+408T>C),
55596065(c.558+451T>C),
55596710(c.559-131T>C),
55596732(c.559-109C>G),
55596806(c.559-35T>G),
55596814(c.559-27T>C),
55596830(c.559-11T>C),
+1kb
55597667(c.*677A>T),
55597756(c.*766T>C),
55597858(c.*868G>T),
55597899(c.*909G>A),
55597906(c.*916A>G),
55597964(c.*974G>A),
55598006(c.*1016G>A),
55598022(c.*1032G>A),
55598122(c.*1132G>A),
55598200(c.*1210T>C),
55598247(c.*1257C>T),
55598412(c.*1422A>G),
55598436(c.*1446C>T),
55598455(c.*1465C>T),
55598874(c.*1884G>A),
55598990(c.*2000A>G),
55599062(c.*2072T>C),
55599115(c.*2125C>T),
55599223(c.*2233G>A),
55599324(c.*2334A>G),
55599444(c.*2454C>A),
55599461(c.*2471G>A),
55599474(c.*2484A>T),
55599715(c.*2725A>G),
55599770(c.*2780A>C),
55599977(c.*2987A>G),
55600084(c.*3094G>A),
55600105(c.*3115T>G),
55600208(c.*3218G>T),
55600213(c.*3223G>A),
55600249(c.*3259A>G),
55600406(c.*3416G>A),
55600501(c.*3511A>G),
55600895(c.*3905A>T),
55601110(c.*4120G>A),
55601185(c.*4195C>T),
55601201(c.*4211G>A),
55601241(c.*4251C>T),
55601411(c.*4421T>G),
55601694(c.*4704T>C),
55601729(c.*4739G>A),
55602026(c.*5036T>C),
55602152(c.*5162A>G),
55602174(c.*5184T>C),
55602485(c.*5495T>G),
55602576(c.*5586T>C),
55602647(c.*5657G>C),
55602656(c.*5666A>C),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
55598582 (c.*1593_*1594delCT),
55598726 (c.*1737delC),
55598814 (c.*1825_*1826delAA),
55598913 (c.*1924delG),
55600590 (c.*3601delC),
55600744 (c.*3755_*3762delTTTATTTA),
55601076 (c.*4087_*4088delTT),
55601143 (c.*4154delC),
55601149 (c.*4160delC),
55601381 (c.*4392delT),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 3 |
| synonymous substitutions |
55594818 (p.Ala133Ala),
55596879 (p.Thr199Thr),
55596933 (p.Ile217Ile),
|
| non-synonymous substitutions |
55596904 (p.Ile208Val),
55596925 (p.Val215Leu),
55596942 (p.Trp220Cys),
|
B6 transcript
(ENSMUST00000109905)
|
MAAVRGVRVVGSSPGLLLGRGMRAFLLLLWLAARGSALYFHIGETEKKCFIEEIPDETMV
IGNYRTQLYDKQREEYQPATPGLGMFVEVKDPEDKVILARQYGSEGRFTFTSHTPGEHQI
CLHSNSTKFSLFAGGMLRVHLDIQVGEHANDYAEIAAKDKLSELQLRVRQLVEQVEQIQK
EQNYQRWREERFRQTSESTNQRVLWWSILQTLILVAIGVWQMRHLKSFFEAKKLV*
|
|
MSMv4 transcript
|
MAAVRGVRVVGSSPGLLLGRGMRAFLLLLWLAARGSALYFHIGETEKKCFIEEIPDETMV
IGNYRTQLYDKQREEYQPATPGLGMFVEVKDPEDKVILARQYGSEGRFTFTSHTPGEHQI
CLHSNSTKFSLFAGGMLRVHLDIQVGEHANDYAEIAAKDKLSELQLRVRQLVEQVEQIQK
EQNYQRWREERFRQTSESTNQRVLWWSVLQTLILLAIGVCQMRHLKSFFEAKKLV*
|
| homology | 98.73 (236 / 236) |
|