| Reports |
| substitution |
| cSNPs | 8 |
| Insertion | 20 |
| Deletion | 28 |
| SNPs |
-1kb
51403884(c.-14901T>C),
51404155(c.-14630T>C),
51404162(c.-14623G>C),
51404206(c.-14579G>C),
51404272(c.-14513C>T),
51404314(c.-14471G>A),
51404388(c.-14397G>A),
51404705(c.-14080A>G),
51404854(c.-13931A>G),
51404905(c.-13880A>G),
51404960(c.-13825T>C),
51405028(c.-13757G>A),
51405030(c.-13755C>A),
51405239(c.-13546G>A),
51405349(c.-13436C>T),
51405372(c.-13413T>C),
51405430(c.-13355T>C),
51405511(c.-13274C>T),
51405528(c.-13257G>A),
51405670(c.-13115C>T),
51405858(c.-12927A>G),
51405921(c.-12864T>C),
51405933(c.-12852A>G),
51405936(c.-12849T>G),
51406026(c.-12759A>G),
51406252(c.-12533C>T),
51406342(c.-12443C>T),
51406420(c.-12365C>G),
51406422(c.-12363A>G),
51406503(c.-12282T>C),
51406510(c.-12275T>C),
51406511(c.-12274G>A),
51406576(c.-12209A>G),
51406737(c.-12048G>A),
51406744(c.-12041T>C),
51406780(c.-12005A>G),
51406896(c.-11889A>C),
51406913(c.-11872A>G),
51407032(c.-11753A>G),
51407212(c.-11573G>A),
51407380(c.-11405A>C),
51407417(c.-11368A>G),
51407454(c.-11331G>A),
51407481(c.-11304G>A),
51407487(c.-11298T>A),
51407556(c.-11229G>A),
51407569(c.-11216T>C),
51407582(c.-11203T>C),
51407612(c.-11173T>C),
51407734(c.-11051C>T),
51407764(c.-11021T>C),
51407811(c.-10974A>G),
51407863(c.-10922T>C),
51407908(c.-10877A>C),
51407946(c.-10839G>A),
51408038(c.-10747C>G),
51408148(c.-10637C>A),
51408306(c.-10479C>T),
51408310(c.-10475A>G),
51408325(c.-10460A>G),
51408329(c.-10456A>C),
51408395(c.-10390G>T),
51408472(c.-10313T>C),
51408479(c.-10306G>A),
51408499(c.-10286G>A),
5'UTR
CDS
3'UTR
51408722(c.-367C>T),
51420147(c.*226C>G),
51420277(c.*356A>G),
51420387(c.*466G>A),
51420389(c.*468C>T),
51420462(c.*541T>C),
51420598(c.*677A>C),
51420613(c.*692A>G),
51420615(c.*694G>C),
51420703(c.*782G>A),
51420741(c.*820C>T),
51420831(c.*910T>C),
51421009(c.*1088T>C),
51421146(c.*1225T>C),
51421298(c.*1377T>C),
51421377(c.*1456A>C),
51421469(c.*1548T>G),
51421490(c.*1569G>A),
51421654(c.*1733A>G),
51421923(c.*2002G>A),
51421971(c.*2050T>G),
51422064(c.*2143A>G),
51422140(c.*2219C>T),
51422189(c.*2268T>C),
51422299(c.*2378G>A),
51422324(c.*2403G>A),
51422581(c.*2660C>T),
51422583(c.*2662C>T),
51422620(c.*2699A>G),
51422657(c.*2736T>C),
INTRON
51409087(c.-144+142T>A),
51409104(c.-144+159G>A),
51409189(c.-144+244C>T),
51409207(c.-144+262T>C),
51409450(c.-144+505G>A),
51409548(c.-144+603C>T),
51409569(c.-144+624T>G),
51409599(c.-144+654T>C),
51409644(c.-144+699T>A),
51409713(c.-144+768G>A),
51410418(c.-144+1473G>A),
51410464(c.-144+1519C>T),
51410663(c.-144+1718G>A),
51410880(c.-144+1935A>G),
51410914(c.-144+1969A>C),
51410953(c.-144+2008T>C),
51410989(c.-144+2044A>G),
51411005(c.-144+2060A>G),
51411080(c.-144+2135C>T),
51411157(c.-144+2212C>T),
51411158(c.-144+2213A>G),
51411356(c.-144+2411T>C),
51411423(c.-144+2478A>G),
51411441(c.-144+2496C>T),
51411577(c.-144+2632C>T),
51411584(c.-144+2639C>T),
51411600(c.-144+2655C>T),
51411692(c.-144+2747G>A),
51411709(c.-144+2764T>A),
51411716(c.-144+2771G>A),
51411764(c.-144+2819G>A),
51411777(c.-144+2832A>G),
51412032(c.-144+3087G>A),
51412055(c.-144+3110G>A),
51412108(c.-144+3163T>C),
51412210(c.-144+3265C>T),
51412299(c.-144+3354G>C),
51412389(c.-144+3444T>G),
51412396(c.-144+3451T>G),
51412449(c.-144+3504A>G),
51412488(c.-144+3543C>T),
51412631(c.-144+3686A>G),
51412634(c.-144+3689A>G),
51412653(c.-144+3708A>G),
51412909(c.-144+3964C>T),
51412945(c.-144+4000T>C),
51413572(c.-144+4627G>C),
51413584(c.-144+4639T>C),
51413585(c.-144+4640G>A),
51413785(c.-144+4840G>A),
51413883(c.-143-4759G>A),
51414008(c.-143-4634T>G),
51414070(c.-143-4572G>A),
51414111(c.-143-4531A>G),
51414139(c.-143-4503A>G),
51414368(c.-143-4274C>T),
51414407(c.-143-4235C>T),
51414434(c.-143-4208G>A),
51414500(c.-143-4142A>G),
51414535(c.-143-4107A>G),
51414569(c.-143-4073G>A),
51414585(c.-143-4057G>A),
51414619(c.-143-4023C>T),
51414655(c.-143-3987C>T),
51414660(c.-143-3982T>C),
51414720(c.-143-3922G>A),
51414725(c.-143-3917T>C),
51414726(c.-143-3916G>A),
51414802(c.-143-3840A>G),
51414960(c.-143-3682A>G),
51414971(c.-143-3671T>C),
51415037(c.-143-3605G>A),
51415087(c.-143-3555T>C),
51415121(c.-143-3521A>C),
51415196(c.-143-3446C>T),
51415272(c.-143-3370G>A),
51415292(c.-143-3350T>G),
51415314(c.-143-3328A>C),
51415320(c.-143-3322A>G),
51415381(c.-143-3261G>A),
51415488(c.-143-3154A>G),
51415497(c.-143-3145A>C),
51415555(c.-143-3087C>T),
51415621(c.-143-3021G>A),
51415636(c.-143-3006G>T),
51415667(c.-143-2975G>A),
51415745(c.-143-2897C>T),
51415767(c.-143-2875G>T),
51415793(c.-143-2849G>A),
51415805(c.-143-2837C>G),
51416085(c.-143-2557A>G),
51416115(c.-143-2527T>C),
51416620(c.-143-2022G>A),
51416695(c.-143-1947A>G),
51416700(c.-143-1942G>A),
51416739(c.-143-1903G>A),
51416754(c.-143-1888G>A),
51416864(c.-143-1778C>G),
51416939(c.-143-1703G>T),
51416965(c.-143-1677G>A),
51417035(c.-143-1607C>G),
51417064(c.-143-1578G>A),
51417141(c.-143-1501C>A),
51417205(c.-143-1437A>G),
51417208(c.-143-1434A>G),
51417234(c.-143-1408T>C),
51417383(c.-143-1259C>T),
51417386(c.-143-1256G>A),
51417398(c.-143-1244T>A),
51417496(c.-143-1146T>C),
51417785(c.-143-857C>T),
51418138(c.-143-504A>G),
51418168(c.-143-474A>G),
51418370(c.-143-272A>G),
51418425(c.-143-217T>C),
51418428(c.-143-214A>G),
51418541(c.-143-101C>T),
+1kb
51422942(c.*3021T>C),
51422955(c.*3034A>G),
51422968(c.*3047T>C),
51422976(c.*3055A>G),
51422988(c.*3067C>T),
51423044(c.*3123T>C),
51423242(c.*3321C>G),
51423264(c.*3343T>C),
51423370(c.*3449C>T),
51423750(c.*3829A>C),
51423821(c.*3900T>G),
51423881(c.*3960A>G),
51423895(c.*3974G>T),
51423906(c.*3985C>G),
51423920(c.*3999T>G),
51423982(c.*4061C>A),
51424098(c.*4177C>T),
51424181(c.*4260T>C),
51424190(c.*4269G>A),
51424215(c.*4294T>C),
51424438(c.*4517A>G),
51424608(c.*4687G>A),
51424665(c.*4744G>C),
51424667(c.*4746C>T),
51424794(c.*4873A>G),
51424822(c.*4901A>G),
51424830(c.*4909G>T),
51424860(c.*4939T>C),
51424866(c.*4945T>A),
51424935(c.*5014T>C),
51424954(c.*5033C>T),
51425047(c.*5126T>C),
51425055(c.*5134T>C),
51425084(c.*5163C>A),
51425150(c.*5229G>A),
51425224(c.*5303C>T),
51425276(c.*5355C>G),
51425288(c.*5367C>T),
51425307(c.*5386A>G),
51425386(c.*5465G>A),
51425435(c.*5514C>T),
51425454(c.*5533G>A),
51425479(c.*5558A>C),
51425519(c.*5598G>A),
51425566(c.*5645A>G),
51425577(c.*5656G>A),
51425697(c.*5776T>A),
51425980(c.*6059A>G),
51426002(c.*6081A>C),
51426017(c.*6096T>C),
51426056(c.*6135G>A),
51426144(c.*6223G>A),
51426146(c.*6225T>C),
51426281(c.*6360C>G),
51426313(c.*6392A>G),
51426352(c.*6431A>G),
51426490(c.*6569C>T),
51426700(c.*6779T>C),
51426735(c.*6814C>T),
51426962(c.*7041A>G),
51426983(c.*7062A>G),
51427016(c.*7095C>T),
51427052(c.*7131T>C),
51427072(c.*7151C>T),
51427104(c.*7183G>A),
51427277(c.*7356A>T),
51427296(c.*7375C>A),
51427352(c.*7431A>G),
51427373(c.*7452A>T),
51427429(c.*7508C>T),
51427491(c.*7570A>G),
51427502(c.*7581C>T),
51427522(c.*7601T>C),
51427590(c.*7669T>C),
51427593(c.*7672C>T),
51427600(c.*7679T>C),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
51409608 (c.-144+668delG),
51410820 (c.-144+1882delC),
51411815 (c.-144+2871_-144+2875delCCCCA),
51411846 (c.-144+2902_-144+2905delACCC),
51413341 (c.-144+4398_-144+4404delCACACAA),
51413968 (c.-143-4668_-143-4665delCTTA),
51413973 (c.-143-4668_-143-4665delCTTA),
51415527 (c.-143-3111_-143-3110delGA),
51416679 (c.-143-1962delC),
51416728 (c.-143-1913_-143-1912delGT),
51416864 (c.-143-1777delA),
51417718 (c.-143-923_-143-922delGC),
51418260 (c.-143-381_-143-374delCTTCCTTC),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 8 |
| non-synonymous num | 0 |
| synonymous substitutions |
51419060 (p.Ala92Ala),
51419078 (p.Leu98Leu),
51419159 (p.Ala125Ala),
51419222 (p.Pro146Pro),
51419525 (p.Ile247Ile),
51419597 (p.Ala271Ala),
51419624 (p.Ser280Ser),
51419735 (p.Leu317Leu),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000087978)
|
MATTHAQGHQPVLGNDTLREHYDYVGKLAGRLRDPPEGGTLITTILFLVTCSFIVLENLM
VLIAIWKNNKFHNRMYFFIGNLALCDLLAGIAYKVNILMSGRKTFSLSPTVWFLREGSMF
VALGASTCSLLAIAIERHLTMIKMRPYDANKKHRVFLLIGMCWLIAFSLGALPILGWNCL
ENFPDCSTILPLYSKKYIAFLISIFTAILVTIVILYARIYCLVKSSSRRVANHNSERSMA
LLRTVVIVVSVFIACWSPLFILFLIDVACRAKECSILFKSQWFIMLAVLNSAMNPVIYTL
ASKEMRRAFFRLVCGCLVKGKGTQASPMQPALDPSRSKSSSSNNSSHSPKVKEDLPRVAT
SSCIIDKNRSFQNGVLCK*
|
|
MSMv4 transcript
|
MATTHAQGHQPVLGNDTLREHYDYVGKLAGRLRDPPEGGTLITTILFLVTCSFIVLENLM
VLIAIWKNNKFHNRMYFFIGNLALCDLLAGIAYKVNILMSGRKTFSLSPTVWFLREGSMF
VALGASTCSLLAIAIERHLTMIKMRPYDANKKHRVFLLIGMCWLIAFSLGALPILGWNCL
ENFPDCSTILPLYSKKYIAFLISIFTAILVTIVILYARIYCLVKSSSRRVANHNSERSMA
LLRTVVIVVSVFIACWSPLFILFLIDVACRAKECSILFKSQWFIMLAVLNSAMNPVIYTL
ASKEMRRAFFRLVCGCLVKGKGTQASPMQPALDPSRSKSSSSNNSSHSPKVKEDLPRVAT
SSCIIDKNRSFQNGVLCK*
|
| homology | 100.00 (379 / 379) |
|