| Reports |
| substitution |
| cSNPs | 6 |
| Insertion | 21 |
| Deletion | 27 |
| SNPs |
-1kb
33715445(c.-8406G>A),
33715483(c.-8368C>T),
33715796(c.-8055T>C),
33715861(c.-7990G>A),
33715905(c.-7946T>C),
33717007(c.-6844G>A),
33717163(c.-6688C>T),
33717289(c.-6562A>T),
33717293(c.-6558A>C),
33717459(c.-6392T>G),
33717505(c.-6346C>T),
33717557(c.-6294G>A),
33717637(c.-6214T>C),
33718820(c.-5031A>G),
33718826(c.-5025A>G),
33719072(c.-4779G>A),
33719127(c.-4724A>G),
33719344(c.-4507A>G),
33719574(c.-4277T>C),
33719748(c.-4103A>G),
33720091(c.-3760A>G),
5'UTR
CDS
3'UTR
33720463(c.-279A>G),
33720516(c.-226G>A),
33720517(c.-225C>T),
33721638(c.-127A>C),
33739442(c.*50T>C),
33739506(c.*114C>G),
33739523(c.*131C>T),
33739582(c.*190T>C),
33739671(c.*279G>A),
33739735(c.*343A>G),
33739779(c.*387A>G),
33739886(c.*494G>A),
33739944(c.*552G>A),
33740032(c.*640A>C),
33740146(c.*754A>C),
33740320(c.*928G>A),
33740323(c.*931C>T),
33740426(c.*1034T>G),
33740434(c.*1042G>A),
33740474(c.*1082T>G),
33740496(c.*1104C>G),
33740558(c.*1166G>A),
33740565(c.*1173C>T),
33740632(c.*1240C>T),
33740712(c.*1320C>T),
33740812(c.*1420G>A),
33740921(c.*1529G>T),
33740937(c.*1545G>T),
33741013(c.*1621G>A),
33741234(c.*1842C>T),
33741505(c.*2113T>C),
33741509(c.*2117G>A),
33741632(c.*2240T>C),
33741803(c.*2411A>G),
33741818(c.*2426A>G),
33741879(c.*2487A>G),
33741949(c.*2557T>C),
33742115(c.*2723T>C),
INTRON
33720636(c.-158+52T>G),
33720662(c.-158+78A>G),
33720663(c.-158+79T>C),
33720668(c.-158+84G>A),
33720812(c.-158+228A>G),
33720814(c.-158+230G>T),
33720897(c.-158+313G>A),
33720914(c.-158+330A>G),
33720919(c.-158+335T>C),
33721065(c.-158+481A>G),
33721088(c.-158+504A>C),
33721221(c.-157-387C>T),
33721236(c.-157-372T>A),
33721246(c.-157-362A>G),
33721342(c.-157-266A>G),
33721400(c.-157-208G>A),
33721404(c.-157-204T>C),
33721504(c.-157-104A>G),
33721597(c.-157-11G>T),
33721743(c.-66+44T>C),
33721752(c.-66+53G>A),
33721994(c.-66+295G>C),
33722088(c.-66+389G>A),
33722150(c.-66+451T>C),
33722318(c.-66+619G>C),
33722332(c.-66+633T>C),
33722333(c.-66+634G>A),
33722345(c.-66+646C>T),
33722363(c.-66+664T>C),
33722378(c.-66+679A>T),
33722386(c.-66+687C>T),
33723048(c.-65-738T>C),
33723072(c.-65-714A>G),
33723100(c.-65-686A>G),
33723328(c.-65-458G>C),
33723423(c.-65-363T>C),
33723443(c.-65-343G>A),
33723549(c.-65-237C>T),
33723551(c.-65-235C>T),
33723579(c.-65-207G>T),
33723719(c.-65-67G>A),
33724144(c.155+139A>T),
33724169(c.155+164T>C),
33724199(c.155+194A>G),
33724475(c.156-459G>A),
33724516(c.156-418C>T),
33724527(c.156-407G>A),
33724756(c.156-178C>T),
33724772(c.156-162T>C),
33724924(c.156-10T>C),
33725053(c.241+34C>T),
33725100(c.241+81C>A),
33725153(c.241+134A>G),
33725156(c.241+137T>C),
33725223(c.241+204T>C),
33725233(c.241+214C>T),
33725330(c.241+311A>G),
33725443(c.241+424T>C),
33725455(c.241+436C>T),
33725480(c.241+461A>G),
33725541(c.241+522T>G),
33725668(c.241+649G>A),
33725669(c.241+650C>T),
33725670(c.241+651A>G),
33725888(c.241+869G>A),
33726159(c.241+1140C>T),
33726502(c.241+1483C>T),
33726620(c.241+1601C>T),
33727100(c.241+2081C>T),
33727450(c.241+2431C>T),
33727465(c.241+2446A>G),
33727520(c.241+2501C>T),
33727782(c.241+2763T>C),
33727792(c.241+2773A>G),
33727819(c.241+2800C>T),
33727979(c.241+2960T>C),
33727983(c.241+2964A>T),
33728082(c.241+3063C>T),
33728258(c.241+3239G>A),
33728657(c.241+3638A>G),
33728803(c.241+3784G>A),
33729091(c.241+4072A>G),
33729236(c.241+4217A>G),
33730093(c.242-4609C>G),
33730185(c.242-4517G>A),
33730211(c.242-4491C>A),
33730308(c.242-4394G>A),
33730341(c.242-4361G>A),
33730367(c.242-4335G>A),
33730398(c.242-4304C>T),
33730400(c.242-4302G>C),
33730505(c.242-4197A>C),
33730558(c.242-4144G>A),
33730638(c.242-4064C>G),
33730843(c.242-3859C>T),
33730988(c.242-3714A>T),
33730990(c.242-3712C>T),
33730991(c.242-3711A>C),
33731005(c.242-3697T>C),
33731006(c.242-3696G>A),
33731071(c.242-3631A>G),
33731125(c.242-3577T>A),
33731250(c.242-3452T>A),
33731277(c.242-3425C>T),
33731528(c.242-3174G>A),
33731930(c.242-2772C>T),
33732121(c.242-2581G>C),
33732155(c.242-2547G>A),
33732181(c.242-2521C>T),
33732184(c.242-2518G>A),
33732316(c.242-2386T>C),
33732396(c.242-2306C>T),
33732473(c.242-2229T>C),
33732602(c.242-2100C>G),
33733064(c.242-1638G>A),
33733088(c.242-1614A>G),
33733175(c.242-1527T>G),
33733409(c.242-1293A>G),
33733705(c.242-997A>G),
33733790(c.242-912T>G),
33733795(c.242-907T>A),
33733849(c.242-853A>G),
33733912(c.242-790G>A),
33733961(c.242-741A>G),
33733966(c.242-736T>C),
33734019(c.242-683G>A),
33734044(c.242-658T>C),
33734048(c.242-654G>C),
33734052(c.242-650T>C),
33734064(c.242-638T>C),
33734121(c.242-581T>C),
33734123(c.242-579A>G),
33734170(c.242-532C>A),
33734203(c.242-499T>C),
33734279(c.242-423G>A),
33734554(c.242-148T>A),
33735002(c.398+144T>A),
33735005(c.398+147C>T),
33735082(c.398+224G>A),
33735395(c.398+537T>C),
33735473(c.398+615T>C),
33735535(c.398+677C>T),
33735544(c.398+686C>G),
33735565(c.398+707T>C),
33735590(c.398+732T>C),
33735593(c.398+735C>A),
33735669(c.398+811C>T),
33735675(c.398+817C>T),
33735813(c.398+955A>C),
33735980(c.399-820A>G),
33735986(c.399-814A>C),
33736042(c.399-758C>G),
33736074(c.399-726C>A),
33736175(c.399-625T>G),
33736187(c.399-613C>A),
33736194(c.399-606T>C),
33736294(c.399-506G>A),
33736340(c.399-460T>C),
33736905(c.481+23G>T),
33736910(c.481+28G>C),
33737081(c.481+199G>A),
33737101(c.481+219G>T),
33737413(c.481+531G>A),
33737533(c.481+651A>G),
33738858(c.575-395C>G),
33738863(c.575-390A>G),
33738945(c.575-308A>G),
33738958(c.575-295T>C),
33739066(c.575-187A>G),
33739120(c.575-133T>C),
+1kb
33742783(c.*3391T>G),
33742809(c.*3417T>C),
33742819(c.*3427A>G),
33742849(c.*3457T>G),
33742902(c.*3510C>T),
33743014(c.*3622T>G),
33743027(c.*3635T>C),
33744113(c.*4721T>A),
33744412(c.*5020C>T),
33745619(c.*6227T>C),
33745742(c.*6350G>A),
33745853(c.*6461G>A),
33745972(c.*6580G>T),
33746103(c.*6711T>A),
33746116(c.*6724C>T),
33746135(c.*6743T>C),
33746137(c.*6745C>T),
33746228(c.*6836C>T),
33746239(c.*6847A>G),
33746259(c.*6867A>G),
33746353(c.*6961A>G),
33746402(c.*7010T>C),
33746587(c.*7195A>C),
33746940(c.*7548C>T),
33747324(c.*7932A>G),
33747337(c.*7945T>C),
33747340(c.*7948C>T),
33747382(c.*7990A>T),
33747453(c.*8061G>A),
33747477(c.*8085A>G),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
33720650 (c.-158+66_-158+67insC),
33721052 (c.-158+469dupT),
33721582 (c.-157-22dupT),
33721921 (c.-66+225_-66+226insCAGTAG),
33723393 (c.-65-393_-65-392dupAA),
33723412 (c.-65-375_-65-374dupAA),
33725199 (c.241+181_241+182dupAG),
33726680 (c.241+1661_241+1662insG),
33727030 (c.241+2012_241+2013insGTGTAT),
33730965 (c.242-3744_242-3737dupACATACAT),
33731916 (c.242-2785_242-2784dupTG),
33733421 (c.242-1277_242-1276insCTCTCTCT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
33720868 (c.-158+285_-158+288delTAAA),
33722333 (c.-66+635_-66+636delGC),
33723309 (c.-65-476delT),
33723728 (c.-65-56delT),
33725870 (c.241+854_241+855delAG),
33728066 (c.241+3050_241+3056delTAACAGT),
33730874 (c.242-3807_242-3804delACAT),
33730894 (c.242-3804_242-3797delTGCATACA),
33731236 (c.242-3465_242-3458delTGTCTGTC),
33731250 (c.242-3451_242-3450delGG),
33733442 (c.242-1259delC),
33733652 (c.242-1047_242-1040delCAGGACCT),
33735149 (c.398+297delA),
33735354 (c.398+506_398+509delAAAA),
33739132 (c.575-107_575-102delGAAACA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 1 |
| synonymous substitutions |
33734724 (p.Val88Val),
33734739 (p.Asp93Asp),
33734820 (p.Gln120Gln),
33734847 (p.Ser129Ser),
33734850 (p.Cys130Cys),
|
| non-synonymous substitutions |
33739273 (p.Arg199Gly),
|
B6 transcript
(ENSMUST00000115174)
|
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRL
MLWDTAGQEEFDAITKAYYRGAQACVLVFSTTDRESFEAISSWREKVVAEVGDIPTALVQ
NKIDLLDDSCIKNEEAEGLAKRLKLRFYRTSVKEDLNVSEVFKYLAEKHLQKLKQQITED
PEQTHSSSNKIGVFNASVRSHLGQNSSSLNGGDVINLRPNKQRTKRTRNPFSSCSVP*
|
|
MSMv4 transcript
|
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRL
MLWDTAGQEEFDAITKAYYRGAQACVLVFSTTDRESFEAISSWREKVVAEVGDIPTALVQ
NKIDLLDDSCIKNEEAEGLAKRLKLRFYRTSVKEDLNVSEVFKYLAEKHLQKLKQQITED
PEQTHSSSNKIGVFNASVGSHLGQNSSSLNGGDVINLRPNKQRTKRTRNPFSSCSVP*
|
| homology | 99.58 (238 / 238) |
|