| Reports |
| substitution |
| cSNPs | 10 |
| Insertion | 32 |
| Deletion | 42 |
| SNPs |
-1kb
15800691(c.-4987A>G),
15801600(c.-4078C>G),
15801806(c.-3872A>G),
15801892(c.-3786T>G),
15801895(c.-3783T>C),
15801899(c.-3779A>G),
15801998(c.-3680A>G),
15802010(c.-3668T>C),
15802135(c.-3543A>G),
15802163(c.-3515A>T),
15802181(c.-3497G>C),
15802207(c.-3471C>T),
15802277(c.-3401A>G),
15802278(c.-3400A>C),
15802338(c.-3340A>G),
15802351(c.-3327T>C),
15802356(c.-3322C>T),
15802487(c.-3191A>T),
15802502(c.-3176G>C),
15802536(c.-3142T>C),
15802685(c.-2993A>G),
15802715(c.-2963A>T),
15802761(c.-2917A>G),
15802899(c.-2779G>T),
15802918(c.-2760G>A),
15802979(c.-2699G>A),
15803001(c.-2677G>C),
15803025(c.-2653C>T),
15803041(c.-2637G>A),
15803083(c.-2595T>C),
15803128(c.-2550A>C),
15803158(c.-2520A>G),
15803275(c.-2403A>C),
15803464(c.-2214A>G),
15803467(c.-2211T>C),
15803580(c.-2098G>T),
15803663(c.-2015C>T),
15803667(c.-2011G>A),
15803702(c.-1976T>G),
15803752(c.-1926C>T),
15803782(c.-1896C>T),
15803874(c.-1804A>G),
15805487(c.-191T>C),
15805595(c.-83T>C),
15805620(c.-58C>T),
5'UTR
CDS
15805795(c.118C>A),
15805797(c.120T>G),
15805828(c.151G>A),
15805875(c.198C>G),
15805911(c.234T>C),
15815940(c.553G>A),
15819719(c.804C>T),
15831550(c.892A>T),
15833428(c.936A>G),
15833438(c.946C>A),
3'UTR
INTRON
15805971(c.280+14C>G),
15806163(c.280+206A>G),
15806166(c.280+209G>C),
15806185(c.280+228T>C),
15806230(c.280+273C>G),
15806365(c.280+408G>A),
15806406(c.280+449A>C),
15806539(c.280+582A>G),
15806603(c.280+646A>G),
15806696(c.280+739T>C),
15806726(c.280+769T>C),
15806800(c.281-841T>G),
15807070(c.281-571A>T),
15807204(c.281-437C>T),
15807236(c.281-405C>T),
15807256(c.281-385G>A),
15807531(c.281-110A>G),
15808099(c.376+363A>T),
15808146(c.376+410T>C),
15808415(c.376+679T>G),
15808423(c.376+687T>C),
15808548(c.376+812C>G),
15808582(c.376+846A>G),
15808780(c.376+1044T>G),
15808874(c.376+1138G>A),
15808888(c.376+1152A>G),
15808927(c.376+1191T>C),
15809010(c.376+1274T>C),
15809050(c.376+1314C>G),
15809129(c.376+1393C>T),
15809196(c.376+1460T>G),
15809205(c.376+1469G>T),
15809240(c.376+1504T>C),
15809306(c.376+1570G>C),
15809566(c.376+1830G>A),
15809641(c.376+1905A>T),
15809665(c.376+1929A>G),
15809821(c.376+2085T>G),
15809840(c.376+2104T>C),
15809846(c.376+2110G>C),
15809998(c.376+2262A>C),
15810137(c.376+2401G>A),
15810222(c.376+2486G>A),
15810294(c.376+2558G>A),
15810322(c.376+2586A>G),
15810324(c.376+2588A>C),
15810447(c.377-2594G>A),
15810706(c.377-2335A>G),
15810948(c.377-2093C>A),
15810949(c.377-2092G>A),
15810952(c.377-2089T>C),
15810981(c.377-2060A>G),
15811003(c.377-2038C>T),
15811056(c.377-1985C>A),
15811071(c.377-1970G>C),
15811130(c.377-1911A>T),
15811296(c.377-1745C>T),
15811310(c.377-1731T>G),
15811410(c.377-1631A>G),
15811652(c.377-1389A>G),
15811722(c.377-1319G>A),
15811802(c.377-1239C>T),
15811923(c.377-1118A>G),
15811982(c.377-1059T>C),
15811999(c.377-1042T>G),
15812246(c.377-795A>G),
15812258(c.377-783G>A),
15812422(c.377-619G>A),
15812427(c.377-614C>T),
15812588(c.377-453G>A),
15812618(c.377-423C>T),
15812941(c.377-100G>A),
15813036(c.377-5A>G),
15813334(c.498+172A>T),
15813487(c.498+325C>T),
15813592(c.498+430G>C),
15813601(c.498+439C>T),
15813667(c.498+505T>C),
15813668(c.498+506C>T),
15813795(c.498+633A>G),
15813830(c.498+668A>G),
15813861(c.498+699C>T),
15813952(c.498+790T>C),
15814209(c.498+1047G>T),
15814689(c.499-1197G>T),
15814703(c.499-1183G>A),
15814711(c.499-1175T>C),
15814815(c.499-1071T>A),
15814976(c.499-910C>A),
15815037(c.499-849G>C),
15815321(c.499-565A>G),
15815331(c.499-555C>T),
15815564(c.499-322C>G),
15815876(c.499-10C>T),
15816305(c.585+333T>C),
15816358(c.585+386T>C),
15816825(c.585+853A>G),
15817031(c.585+1059T>A),
15817063(c.585+1091G>T),
15817102(c.585+1130T>A),
15817131(c.585+1159A>G),
15817379(c.585+1407C>T),
15817404(c.585+1432G>T),
15817694(c.586-1240G>A),
15818186(c.586-748C>T),
15818448(c.586-486T>G),
15818541(c.586-393T>A),
15818672(c.586-262G>T),
15818809(c.586-125T>G),
15818895(c.586-39A>G),
15819422(c.736-229A>G),
15819425(c.736-226A>G),
15819447(c.736-204A>G),
15820181(c.848+418A>G),
15820213(c.848+450A>G),
15820353(c.848+590C>T),
15820616(c.848+853C>A),
15820671(c.848+908C>T),
15820677(c.848+914G>A),
15821077(c.848+1314A>T),
15821101(c.848+1338C>T),
15821239(c.848+1476G>C),
15821351(c.848+1588T>C),
15821360(c.848+1597T>C),
15821396(c.848+1633T>C),
15821538(c.848+1775G>A),
15821615(c.848+1852A>G),
15821716(c.848+1953T>C),
15821955(c.848+2192G>T),
15822169(c.848+2406T>A),
15822200(c.848+2437G>A),
15822236(c.848+2473A>G),
15822465(c.848+2702A>G),
15823154(c.848+3391C>T),
15823203(c.848+3440A>G),
15823946(c.848+4183T>A),
15823972(c.848+4209A>C),
15824007(c.848+4244C>A),
15824034(c.848+4271A>G),
15824310(c.848+4547C>G),
15824321(c.848+4558C>A),
15824342(c.848+4579T>C),
15824348(c.848+4585C>G),
15824717(c.848+4954A>G),
15824745(c.848+4982A>T),
15825094(c.848+5331C>G),
15825468(c.848+5705C>T),
15826317(c.849-5190A>G),
15826598(c.849-4909G>A),
15827197(c.849-4310A>C),
15827324(c.849-4183A>T),
15827457(c.849-4050G>A),
15827500(c.849-4007T>C),
15827526(c.849-3981A>G),
15827544(c.849-3963G>A),
15827594(c.849-3913G>A),
15827639(c.849-3868G>T),
15827842(c.849-3665C>G),
15828148(c.849-3359G>A),
15828169(c.849-3338G>A),
15828304(c.849-3203A>G),
15828493(c.849-3014C>T),
15828624(c.849-2883A>G),
15828835(c.849-2672C>A),
15828837(c.849-2670A>T),
15828884(c.849-2623T>C),
15829737(c.849-1770T>C),
15829880(c.849-1627A>G),
15830197(c.849-1310T>C),
15830202(c.849-1305G>A),
15830299(c.849-1208G>A),
15830379(c.849-1128C>T),
15830484(c.849-1023A>G),
15830526(c.849-981G>A),
15830811(c.849-696G>A),
15830940(c.849-567G>T),
15831015(c.849-492A>C),
15831653(c.908+87C>T),
15831806(c.908+240G>A),
15832013(c.908+447G>A),
15832044(c.908+478A>G),
15832135(c.908+569G>A),
15832171(c.908+605G>A),
15832239(c.908+673T>C),
15832312(c.908+746A>G),
15832340(c.908+774G>T),
15832484(c.909-917C>A),
15832588(c.909-813A>G),
15832704(c.909-697G>A),
15832724(c.909-677C>T),
15833157(c.909-244A>G),
15833526(c.997+37G>T),
15834780(c.997+1291T>A),
15834827(c.997+1338A>G),
15834828(c.997+1339A>T),
15834927(c.997+1438A>C),
15835118(c.997+1629T>A),
15835270(c.997+1781T>C),
15835272(c.997+1783G>C),
15835436(c.997+1947G>A),
15835472(c.997+1983G>A),
15835569(c.997+2080A>G),
15835642(c.997+2153A>G),
15835921(c.998-2261C>A),
15836076(c.998-2106T>C),
15836243(c.998-1939T>G),
15836327(c.998-1855C>T),
15836593(c.998-1589A>G),
15840798(c.1105-2123A>G),
15840861(c.1105-2060T>C),
15840862(c.1105-2059G>A),
15841312(c.1105-1609T>G),
15841791(c.1105-1130T>C),
15842229(c.1105-692T>C),
15842261(c.1105-660G>C),
15842281(c.1105-640C>G),
15842322(c.1105-599C>T),
+1kb
15844213(c.*1131G>A),
15844236(c.*1154T>A),
15844320(c.*1238G>A),
15845045(c.*1963C>G),
15845064(c.*1982G>A),
15845074(c.*1992G>T),
15845118(c.*2036T>G),
15845264(c.*2182T>A),
15845507(c.*2425G>A),
15845827(c.*2745T>C),
15846061(c.*2979A>C),
15846224(c.*3142A>C),
15847875(c.*4793G>T),
15847929(c.*4847A>G),
15848225(c.*5143G>A),
15848263(c.*5181G>T),
15848387(c.*5305G>A),
15848698(c.*5616C>T),
15848707(c.*5625G>T),
15848719(c.*5637A>C),
15848810(c.*5728A>G),
15848994(c.*5912C>T),
15849016(c.*5934G>A),
15849049(c.*5967G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
15806167 (c.280+210dupC),
15806187 (c.280+230_280+231insTT),
15808304 (c.376+568_376+569dupGT),
15809864 (c.376+2129dupT),
15810242 (c.376+2507_376+2508insCT),
15810552 (c.377-2485dupT),
15811150 (c.377-1889dupA),
15811734 (c.377-1307_377-1306insC),
15812721 (c.377-313dupT),
15816728 (c.585+756_585+757insACCATCTAG),
15817475 (c.586-1455dupC),
15818217 (c.586-715_586-714dupTC),
15822044 (c.848+2288dupA),
15822488 (c.848+2726_848+2727insATTT),
15825485 (c.848+5726_848+5729dupTTTG),
15828001 (c.849-3506_849-3505insAATA),
15828202 (c.849-3305_849-3304insA),
15829769 (c.849-1739_849-1738dupTA),
15829849 (c.849-1658_849-1657insATAAGT),
15832014 (c.908+448_908+449insTTTG),
15833049 (c.909-346_909-344dupAAA),
15834807 (c.997+1319_997+1320insCCA),
15836571 (c.998-1611_998-1610insC),
15839486 (c.1104+1198_1104+1199insA),
15840276 (c.1104+1988_1104+1989insC),
15840679 (c.1105-2234_1105-2233dupTT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
15806054 (c.280+99delC),
15807500 (c.281-138delA),
15807637 (c.281-3_281-2delTA),
15807892 (c.376+160_376+161delTA),
15808060 (c.376+328_376+329delGG),
15808993 (c.376+1270_376+1274delTGTTT),
15812177 (c.377-854delT),
15813003 (c.377-35_377-29delTAATGCT),
15814165 (c.498+1007delA),
15814168 (c.498+1007delA),
15814267 (c.498+1106_498+1113delGAGAGAGA),
15816050 (c.585+79delG),
15818423 (c.586-507delA),
15818717 (c.586-216_586-215delGG),
15819261 (c.735+179delA),
15820163 (c.848+404_848+407delAGTT),
15824937 (c.848+5175delT),
15824947 (c.848+5191delT),
15824953 (c.848+5191delT),
15826035 (c.849-5465_849-5461delGTTCA),
15828544 (c.849-2957_849-2954delAGCA),
15828563 (c.849-2939delA),
15828567 (c.849-2938_849-2937delGA),
15829299 (c.849-2201_849-2197delTTTAC),
15829906 (c.849-1596_849-1590delCTTTTTT),
15830608 (c.849-898_849-897delAG),
15830782 (c.849-716delA),
15831491 (c.849-15_849-14delTT),
15831501 (c.849-5_849-2delCACA),
15833234 (c.909-165_909-164delAA),
15834563 (c.997+1077delT),
15835522 (c.997+2041delA),
15836905 (c.998-1272_998-1267delCCAAAA),
15838071 (c.998-110_998-104delCGGAAGA),
15840218 (c.1104+1941delT),
15840872 (c.1105-2039_1105-2038delGG),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 5 |
| synonymous substitutions |
15805797 (p.Leu40Leu),
15805875 (p.Leu66Leu),
15805911 (p.Arg78Arg),
15819719 (p.Thr268Thr),
15833428 (p.Leu312Leu),
|
| non-synonymous substitutions |
15805795 (p.Leu40Ile),
15805828 (p.Ala51Thr),
15815940 (p.Glu185Lys),
15831550 (p.Thr298Ser),
15833438 (p.Arg316Ser),
|
B6 transcript
(ENSMUST00000188371)
|
MAETVSSAARDAPSREGWTDSDSPEQEEVGDDAELLQCQLQLGTPREMENAELVAEVEAV
AAGWMLDFLCLSLCRAFRDGRSEDFRRTRDSAEAIIHGLHRLTAYQLKTVYICQFLTRVA
SGKALDAQFEVDERITPLESALMIWNSIEKEHDKLHDEIKNLIKIQAVAVCMEIGSFKEA
EEVFERIFGDPEFYTPLERKLLKIISQKDVFHSLFQHFSYSCMMEKIQSYVGDVLSEKSS
TFLMKAATKVVENEKARTQASKDRPDATNTGMDTEVGLNKEKSVNGQQSTETEPLVDTVS
SIRSHKNALSQLKHRRAPSDFSRNEARTGTLQCETTMERNRRTSGRNRLCVSENQPDTDD
KSGRRKRQTWLWEEDRILKCGVKKYGEGNWAKILSHYKFNNRTSVMLKDRWRTMKRLKLI
S*
|
|
MSMv4 transcript
|
MAETVSSAARDAPSREGWTDSDSPEQEEVGDDAELLQCQMQLGTPREMENTELVAEVEAV
AAGWMLDFLCLSLCRAFRDGRSEDFRRTRDSAEAIIHGLHRLTAYQLKTVYICQFLTRVA
SGKALDAQFEVDERITPLESALMIWNSIEKEHDKLHDEIKNLIKIQAVAVCMEIGSFKEA
EEVFKRIFGDPEFYTPLERKLLKIISQKDVFHSLFQHFSYSCMMEKIQSYVGDVLSEKSS
TFLMKAATKVVENEKARTQASKDRPDATNTGMDTEVGLNKEKSVNGQQSTETEPLVDSVS
SIRSHKNALSQLKHRSAPSDFSRNEARTGTLQCETTMERNRRTSGRNRLCVSENQPDTDD
KSGRRKRQTWLWEEDRILKCGVKKYGEGNWAKILSHYKFNNRTSVMLKDRWRTMKRLKLI
S*
|
| homology | 98.82 (422 / 422) |
|