| Reports |
| substitution |
| cSNPs | 5 |
| Insertion | 15 |
| Deletion | 28 |
| SNPs |
+1kb
40734144(c.-430A>T),
40735390(c.-1676A>G),
40735517(c.-1803G>A),
40735616(c.-1902T>G),
40735799(c.-2085C>T),
40735892(c.-2178C>T),
40736048(c.-2334G>A),
40736235(c.-2521G>T),
40736385(c.-2671A>G),
40736460(c.-2746T>C),
40737007(c.-3293T>G),
40737215(c.-3501C>T),
40737216(c.-3502C>T),
40737333(c.-3619G>A),
40737565(c.-3851G>C),
40738690(c.-4976C>T),
40738772(c.-5058A>G),
5'UTR
CDS
3'UTR
40715801(c.*1314T>G),
40715802(c.*1313C>T),
40715861(c.*1254G>C),
40715863(c.*1252C>T),
40715866(c.*1249T>C),
40715867(c.*1248T>G),
40716015(c.*1100A>G),
40716778(c.*337G>C),
40716788(c.*327T>A),
40716890(c.*225T>C),
INTRON
40718002(c.1026-599T>C),
40718165(c.1026-762A>C),
40718227(c.1026-824A>G),
40718261(c.1026-858A>G),
40718411(c.1025+781C>T),
40718763(c.1025+429C>G),
40719481(c.884-148G>A),
40719691(c.884-358T>A),
40719715(c.884-382T>C),
40720242(c.884-909A>G),
40720314(c.883+955T>C),
40720361(c.883+908G>A),
40720443(c.883+826A>C),
40720610(c.883+659C>T),
40721502(c.765-115A>G),
40722192(c.765-805G>A),
40722241(c.764+850T>C),
40722848(c.764+243C>T),
40722983(c.764+108A>T),
40723506(c.533-184C>T),
40723540(c.533-218C>A),
40723694(c.533-372G>T),
40723955(c.533-633C>T),
40724152(c.533-830C>T),
40724414(c.532+715A>C),
40724998(c.532+131C>G),
40725183(c.481-3C>T),
40725384(c.481-204A>G),
40725545(c.481-365G>C),
40726130(c.481-950T>A),
40726700(c.481-1520C>T),
40726984(c.480+1358G>A),
40727052(c.480+1290G>A),
40727156(c.480+1186T>G),
40727455(c.480+887A>G),
40727515(c.480+827G>A),
40727530(c.480+812T>C),
40727894(c.480+448A>G),
40729201(c.46-425A>G),
40729266(c.46-490C>T),
40729417(c.46-641T>A),
40729506(c.46-730T>C),
40729600(c.46-824G>T),
40729809(c.46-1033T>C),
40729893(c.46-1117A>T),
40730752(c.46-1976T>A),
40731333(c.45+2337C>T),
40731562(c.45+2108C>A),
40731681(c.45+1989A>G),
40731794(c.45+1876A>G),
40731866(c.45+1804A>G),
40732125(c.45+1545T>A),
40732454(c.45+1216G>A),
40733585(c.45+85C>G),
-1kb
40711071(c.*6044T>C),
40711096(c.*6019T>C),
40711097(c.*6018C>T),
40711267(c.*5848G>T),
40711393(c.*5722A>C),
40711486(c.*5629T>C),
40711608(c.*5507T>C),
40711827(c.*5288A>G),
40712109(c.*5006T>C),
40712273(c.*4842C>T),
40712510(c.*4605C>T),
40712605(c.*4510G>A),
40712877(c.*4238G>A),
40713763(c.*3352T>C),
40713802(c.*3313A>T),
40713886(c.*3229A>G),
40713910(c.*3205G>T),
40714589(c.*2526G>A),
40714592(c.*2523G>A),
40714595(c.*2520G>A),
40714598(c.*2517G>A),
40714601(c.*2514G>A),
40714681(c.*2434C>T),
40714692(c.*2423G>A),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
40718372 (c.1025+816_1025+819delAGAG),
40718928 (c.1025+262_1025+263delTG),
40719116 (c.1025+74_1025+75delAC),
40726678 (c.481-1499delG),
40726884 (c.480+1453_480+1457delAGCAA),
40727089 (c.480+1249_480+1252delGTGT),
40727468 (c.480+868_480+873delATTATA),
40727476 (c.480+864_480+865delTA),
40727485 (c.480+854_480+856delAAT),
40728960 (c.46-193_46-185delGCTTTTTTT),
40730099 (c.46-1329_46-1324delTTTTTC),
40731162 (c.46-2387delC),
40731895 (c.45+1774delA),
40732338 (c.45+1321_45+1331delATCCCTCTCCA),
40732532 (c.45+1135_45+1137delCCC),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 0 |
| synonymous substitutions |
40723171 (p.Lys228Lys),
40723240 (p.Val205Val),
40728393 (p.Gly143Gly),
40728528 (p.Gly98Gly),
40728743 (p.Arg27Arg),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000110193)
|
MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPP
PYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSG
LDPRRDYRRHEDLLHGPHGLGSGLGDLPIHSLPHAIEDVPHVEDPGINIPDQTVIKKGPV
SLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSP
PECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHL
ARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVARKNMLLATKQICKEFTDLLAQDRSPLG
NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS
HTDNSAKSSDKEEKHRK*
|
|
MSMv4 transcript
|
MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPP
PYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSG
LDPRRDYRRHEDLLHGPHGLGSGLGDLPIHSLPHAIEDVPHVEDPGINIPDQTVIKKGPV
SLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSP
PECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHL
ARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVARKNMLLATKQICKEFTDLLAQDRSPLG
NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS
HTDNSAKSSDKEEKHRK*
|
| homology | 100.00 (438 / 438) |
|