MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000446378
MT speed 0 s - this script 3.377331 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CMYA5	polymorphism_automatic	5.295763827462e-14	simple_aae		affected		A1875V	single base exchange	rs16877147		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999947 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:79030212C>TN/A show variant in all transcripts IGV

HGNC symbol

CMYA5

Ensembl transcript ID

ENST00000446378

Genbank transcript ID

NM_153610

UniProt peptide

Q8N3K9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5624C>T
cDNA.5655C>T
g.44513C>T

AA changes

A1875V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1875

frameshift

known variant

Reference ID: rs16877147

database	homozygous (T/T)	heterozygous	allele carriers
1000G	81	473	554
ExAC	1050	9073	10123

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.204	0
	-0.505	0
(flanking)	-0.285	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	44517	wt: 0.73 / mu: 0.82	wt: GCGGATGTCAAAGAA mu: GTGGATGTCAAAGAA	GGAT\|gtca

distance from splice site

5015

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1875

mutated

not conserved

1875

Ptroglodytes

not conserved

ENSPTRG00000023686

1875

Mmulatta

all identical

ENSMMUG00000020733

675

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000047419

1557

Ggallus

no alignment

ENSGALG00000014809

n/a

Trubripes

no alignment

ENSTRUG00000009392

n/a

Drerio

no alignment

ENSDARG00000086935

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1918	1921	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
2038	2038	CONFLICT	E -> K (in Ref. 3; AAH63134).	might get lost (downstream of altered splice site)
2148	2148	CONFLICT	S -> A (in Ref. 5; AAD55265).	might get lost (downstream of altered splice site)
2538	2538	CONFLICT	G -> D (in Ref. 5; AAD55265).	might get lost (downstream of altered splice site)
2782	2784	CONFLICT	MKE -> TKD (in Ref. 2; CAD38607).	might get lost (downstream of altered splice site)
2788	2788	CONFLICT	S -> P (in Ref. 2; CAD38928).	might get lost (downstream of altered splice site)
2933	2933	CONFLICT	P -> L (in Ref. 2; CAD38607).	might get lost (downstream of altered splice site)
2964	2988	COILED	Potential.	might get lost (downstream of altered splice site)
3073	3113	CONFLICT	PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664).	might get lost (downstream of altered splice site)
3131	3131	CONFLICT	Q -> L (in Ref. 6; AAQ09018).	might get lost (downstream of altered splice site)
3291	3291	CONFLICT	R -> W (in Ref. 2; CAD91143).	might get lost (downstream of altered splice site)
3321	3321	CONFLICT	K -> R (in Ref. 2; CAD91143).	might get lost (downstream of altered splice site)
3331	3331	CONFLICT	V -> A (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3348	3348	CONFLICT	V -> A (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	E -> G (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3517	3544	REGION	Amphipathic helix H1.	might get lost (downstream of altered splice site)
3544	3653	COILED	Potential.	might get lost (downstream of altered splice site)
3545	3672	REGION	B-box coiled-coil; BBC.	might get lost (downstream of altered splice site)
3631	3648	REGION	Amphipathic helix H2.	might get lost (downstream of altered splice site)
3705	3801	DOMAIN	Fibronectin type-III 1.	might get lost (downstream of altered splice site)
3751	3767	REGION	Amphipathic helix H3.	might get lost (downstream of altered splice site)
3802	3894	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
3803	3822	CONFLICT	APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143).	might get lost (downstream of altered splice site)
3852	3852	CONFLICT	R -> S (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3880	3880	CONFLICT	N -> S (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3880	4065	DOMAIN	B30.2/SPRY.	might get lost (downstream of altered splice site)
3929	3929	CONFLICT	T -> A (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
3948	3948	CONFLICT	E -> K (in Ref. 2; CAD91158).	might get lost (downstream of altered splice site)
4050	4050	CONFLICT	K -> E (in Ref. 2; CAD38607).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

12210 / 12210

position (AA) of stopcodon in wt / mu AA sequence

4070 / 4070

position of stopcodon in wt / mu cDNA

12241 / 12241

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

32 / 32

chromosome

strand

last intron/exon boundary

11995

theoretical NMD boundary in CDS

11913

length of CDS

12210

coding sequence (CDS) position

5624

cDNA position
(for ins/del: last normal base / first normal base)

5655

gDNA position
(for ins/del: last normal base / first normal base)

44513

chromosomal position
(for ins/del: last normal base / first normal base)

79030212

original gDNA sequence snippet

ATTTATGACAACCAAGCCTGCGGATGTCAAAGAAACAAAAA

altered gDNA sequence snippet

ATTTATGACAACCAAGCCTGTGGATGTCAAAGAAACAAAAA

original cDNA sequence snippet

ATTTATGACAACCAAGCCTGCGGATGTCAAAGAAACAAAAA

altered cDNA sequence snippet

ATTTATGACAACCAAGCCTGTGGATGTCAAAGAAACAAAAA

wildtype AA sequence

MASRDSNHAG ESFLGSDGDE EATRELETEE ESEGEEDETA AESEEEPDSR LSDQDEEGKI
KQEYIISDPS FSMVTVQRED SGITWETNSS RSSTPWASEE SQTSGVCSRE GSTVNSPPGN
VSFIVDEVKK VRKRTHKSKH GSPSLRRKGN RKRNSFESQD VPTNKKGSPL TSASQVLTTE
KEKSYTGIYD KARKKKTTSN TPPITGAIYK EHKPLVLRPV YIGTVQYKIK MFNSVKEELI
PLQFYGTLPK GYVIKEIHYR KGKDASISLE PDLDNSGSNT VSKTRKLVAQ SIEDKVKEVF
PPWRGALSKG SESLTLMFSH EDQKKIYADS PLNATSALEH TVPSYSSSGR AEQGIQLRHS
QSVPQQPEDE AKPHEVEPPS VTPDTPATMF LRTTKEECEL ASPGTAASEN DSSVSPSFAN
EVKKEDVYSA HHSISLEAAS PGLAASTQDG LDPDQEQPDL TSIERAEPVS AKLTPTHPSV
KGEKEENMLE PSISLSEPLM LEEPEKEEIE TSLPIAITPE PEDSNLVEEE IVELDYPESP
LVSEKPFPPH MSPEVEHKEE ELILPLLAAS SPEHVALSEE EREEIASVST GSAFVSEYSV
PQDLNHELQE QEGEPVPPSN VEAIAEHAVL SEEENEEFEA YSPAAAPTSE SSLSPSTTEK
TSENQSPLFS TVTPEYMVLS GDEASESGCY TPDSTSASEY SVPSLATKES LKKTIDRKSP
LILKGVSEYM IPSEEKEDTG SFTPAVAPAS EPSLSPSTTE KTSECQSPLP STATSEHVVP
SEGEDLGSER FTPDSKLISK YAAPLNATQE SQKKIINEAS QFKPKGISEH TVLSVDGKEV
IGPSSPDLVV ASEHSFPPHT TEMTSECQAP PLSATPSEYV VLSDEEAVEL ERYTPSSTSA
SEFSVPPYAT PEAQEEEIVH RSLNLKGASS PMNLSEEDQE DIGPFSPDSA FVSEFSFPPY
ATQEAEKREF ECDSPICLTS PSEHTILSDE DTEEAELFSP DSASQVSIPP FRISETEKNE
LEPDSLLTAV SASGYSCFSE ADEEDIGSTA ATPVSEQFSS SQKQKAETFP LMSPLEDLSL
PPSTDKSEKA EIKPEIPTTS TSVSEYLILA QKQKTQAYLE PESEDLIPSH LTSEVEKGER
EASSSVAAIP AALPAQSSIV KEETKPASPH SVLPDSVPAI KKEQEPTAAL TLKAADEQMA
LSKVRKEEIV PDSQEATAHV SQDQKMEPQP PNVPESEMKY SVLPDMVDEP KKGVKPKLVL
NVTSELEQRK LSKNEPEVIK PYSPLKETSL SGPEALSAVK MEMKHDSKIT TTPIVLHSAS
SGVEKQVEHG PPALAFSALS EEIKKEIEPS SSTTTASVTK LDSNLTRAVK EEIPTDSSLI
TPVDRPVLTK VGKGELGSGL PPLVTSADEH SVLAEEDKVA IKGASPIETS SKHLAWSEAE
KEIKFDSLPS VSSIAEHSVL SEVEAKEVKA GLPVIKTSSS QHSDKSEEAR VEDKQDLLFS
TVCDSERLVS SQKKSLMSTS EVLEPEHELP LSLWGEIKKK ETELPSSQNV SPASKHIIPK
GKDEETASSS PELENLASGL APTLLLLSDD KNKPAVEVSS TAQGDFPSEK QDVALAELSL
EPEKKDKPHQ PLELPNAGSE FSSDLGRQSG SIGTKQAKSP ITETEDSVLE KGPAELRSRE
GKEENRELCA SSTMPAISEL SSLLREESQN EEIKPFSPKI ISLESKEPPA SVAEGGNPEE
FQPFTFSLKG LSEEVSHPAD FKKGGNQEIG PLPPTGNLKA QVMGDILDKL SEETGHPNSS
QVLQSITEPS KIAPSDLLVE QKKTEKALHS DQTVKLPDVS TSSEDKQDLG IKQFSLMREN
LPLEQSKSFM TTKPADVKET KMEEFFISPK DENWMLGKPE NVASQHEQRI AGSVQLDSSS
SNELRPGQLK AAVSSKDHTC EVRKQVLPHS AEESHLSSQE AVSALDTSSG NTETLSSKSY
SSEEVKLAEE PKSLVLAGNV ERNIAEGKEI HSLMESESLL LEKANTELSW PSKEDSQEKI
KLPPERFFQK PVSGLSVEQV KSETISSSVK TAHFPAEGVE PALGNEKEAH RSTPPFPEEK
PLEESKMVQS KVIDDADEGK KPSPEVKIPT QRKPISSIHA REPQSPESPE VTQNPPTQPK
VAKPDLPEEK GKKGISSFKS WMSSLFFGSS TPDNKVAEQE DLETQPSPSV EKAVTVIDPE
GTIPTNFNVA EKPADHSLSE VKLKTADEPR GTLVKSGDGQ NVKEKSMILS NVEDLQQPKF
ISEVSREDYG KKEISGDSEE MNINSVVTSA DGENLEIQSY SLIGEKLVME EAKTIVPPHV
TDSKRVQKPA IAPPSKWNIS IFKEEPRSDQ KQKSLLSFDV VDKVPQQPKS ASSNFASKNI
TKESEKPESI ILPVEESKGS LIDFSEDRLK KEMQNPTSLK ISEEETKLRS VSPTEKKDNL
ENRSYTLAEK KVLAEKQNSV APLELRDSNE IGKTQITLGS RSTELKESKA DAMPQHFYQN
EDYNERPKII VGSEKEKGEE KENQVYVLSE GKKQQEHQPY SVNVAESMSR ESDISLGHSL
GETQSFSLVK ATSVTEKSEA MLAEAHPEIR EAKAVGTQPH PLEESKVLVE KTKTFLPVAL
SCRDEIENHS LSQEGNLVLE KSSRDMPDHS EEKEQFRESE LSKGGSVDIT KETVKQGFQE
KAVGTQPRPL EESKVLVEKT KTFLPVVLSC HDEIENHSLS QEGNLVLEKS SRDMPDHSEE
KEQFKESELW KGGSVDITKE SMKEGFPSKE SERTLARPFD ETKSSETPPY LLSPVKPQTL
ASGASPEINA VKKKEMPRSE LTPERHTVHT IQTSKDDTSD VPKQSVLVSK HHLEAAEDTR
VKEPLSSAKS NYAQFISNTS ASNADKMVSN KEMPKEPEDT YAKGEDFTVT SKPAGLSEDQ
KTAFSIISEG CEILNIHAPA FISSIDQEES EQMQDKLEYL EEKASFKTIP LPDDSETVAC
HKTLKSRLED EKVTPLKENK QKETHKTKEE ISTDSETDLS FIQPTIPSEE DYFEKYTLID
YNISPDPEKQ KAPQKLNVEE KLSKEVTEET ISFPVSSVES ALEHEYDLVK LDESFYGPEK
GHNILSHPET QSQNSADRNV SKDTKRDVDS KSPGMPLFEA EEGVLSRTQI FPTTIKVIDP
EFLEEPPALA FLYKDLYEEA VGEKKKEEET ASEGDSVNSE ASFPSRNSDT DDGTGIYFEK
YILKDDILHD TSLTQKDQGQ GLEEKRVGKD DSYQPIAAEG EIWGKFGTIC REKSLEEQKG
VYGEGESVDH VETVGNVAMQ KKAPITEDVR VATQKISYAV PFEDTHHVLE RADEAGSHGN
EVGNASPEVN LNVPVQVSFP EEEFASGATH VQETSLEEPK ILVPPEPSEE RLRNSPVQDE
YEFTESLHNE VVPQDILSEE LSSESTPEDV LSQGKESFEH ISENEFASEA EQSTPAEQKE
LGSERKEEDQ LSSEVVTEKA QKELKKSQID TYCYTCKCPI SATDKVFGTH KDHEVSTLDT
AISAVKVQLA EFLENLQEKS LRIEAFVSEI ESFFNTIEEN CSKNEKRLEE QNEEMMKKVL
AQYDEKAQSF EEVKKKKMEF LHEQMVHFLQ SMDTAKDTLE TIVREAEELD EAVFLTSFEE
INERLLSAME STASLEKMPA AFSLFEHYDD SSARSDQMLK QVAVPQPPRL EPQEPNSATS
TTIAVYWSMN KEDVIDSFQV YCMEEPQDDQ EVNELVEEYR LTVKESYCIF EDLEPDRCYQ
VWVMAVNFTG CSLPSERAIF RTAPSTPVIR AEDCTVCWNT ATIRWRPTTP EATETYTLEY
CRQHSPEGEG LRSFSGIKGL QLKVNLQPND NYFFYVRAIN AFGTSEQSEA ALISTRGTRF
LLLRETAHPA LHISSSGTVI SFGERRRLTE IPSVLGEELP SCGQHYWETT VTDCPAYRLG
ICSSSAVQAG ALGQGETSWY MHCSEPQRYT FFYSGIVSDV HVTERPARVG ILLDYNNQRL
IFINAESEQL LFIIRHRFNE GVHPAFALEK PGKCTLHLGI EPPDSVRHK*

mutated AA sequence

MASRDSNHAG ESFLGSDGDE EATRELETEE ESEGEEDETA AESEEEPDSR LSDQDEEGKI
KQEYIISDPS FSMVTVQRED SGITWETNSS RSSTPWASEE SQTSGVCSRE GSTVNSPPGN
VSFIVDEVKK VRKRTHKSKH GSPSLRRKGN RKRNSFESQD VPTNKKGSPL TSASQVLTTE
KEKSYTGIYD KARKKKTTSN TPPITGAIYK EHKPLVLRPV YIGTVQYKIK MFNSVKEELI
PLQFYGTLPK GYVIKEIHYR KGKDASISLE PDLDNSGSNT VSKTRKLVAQ SIEDKVKEVF
PPWRGALSKG SESLTLMFSH EDQKKIYADS PLNATSALEH TVPSYSSSGR AEQGIQLRHS
QSVPQQPEDE AKPHEVEPPS VTPDTPATMF LRTTKEECEL ASPGTAASEN DSSVSPSFAN
EVKKEDVYSA HHSISLEAAS PGLAASTQDG LDPDQEQPDL TSIERAEPVS AKLTPTHPSV
KGEKEENMLE PSISLSEPLM LEEPEKEEIE TSLPIAITPE PEDSNLVEEE IVELDYPESP
LVSEKPFPPH MSPEVEHKEE ELILPLLAAS SPEHVALSEE EREEIASVST GSAFVSEYSV
PQDLNHELQE QEGEPVPPSN VEAIAEHAVL SEEENEEFEA YSPAAAPTSE SSLSPSTTEK
TSENQSPLFS TVTPEYMVLS GDEASESGCY TPDSTSASEY SVPSLATKES LKKTIDRKSP
LILKGVSEYM IPSEEKEDTG SFTPAVAPAS EPSLSPSTTE KTSECQSPLP STATSEHVVP
SEGEDLGSER FTPDSKLISK YAAPLNATQE SQKKIINEAS QFKPKGISEH TVLSVDGKEV
IGPSSPDLVV ASEHSFPPHT TEMTSECQAP PLSATPSEYV VLSDEEAVEL ERYTPSSTSA
SEFSVPPYAT PEAQEEEIVH RSLNLKGASS PMNLSEEDQE DIGPFSPDSA FVSEFSFPPY
ATQEAEKREF ECDSPICLTS PSEHTILSDE DTEEAELFSP DSASQVSIPP FRISETEKNE
LEPDSLLTAV SASGYSCFSE ADEEDIGSTA ATPVSEQFSS SQKQKAETFP LMSPLEDLSL
PPSTDKSEKA EIKPEIPTTS TSVSEYLILA QKQKTQAYLE PESEDLIPSH LTSEVEKGER
EASSSVAAIP AALPAQSSIV KEETKPASPH SVLPDSVPAI KKEQEPTAAL TLKAADEQMA
LSKVRKEEIV PDSQEATAHV SQDQKMEPQP PNVPESEMKY SVLPDMVDEP KKGVKPKLVL
NVTSELEQRK LSKNEPEVIK PYSPLKETSL SGPEALSAVK MEMKHDSKIT TTPIVLHSAS
SGVEKQVEHG PPALAFSALS EEIKKEIEPS SSTTTASVTK LDSNLTRAVK EEIPTDSSLI
TPVDRPVLTK VGKGELGSGL PPLVTSADEH SVLAEEDKVA IKGASPIETS SKHLAWSEAE
KEIKFDSLPS VSSIAEHSVL SEVEAKEVKA GLPVIKTSSS QHSDKSEEAR VEDKQDLLFS
TVCDSERLVS SQKKSLMSTS EVLEPEHELP LSLWGEIKKK ETELPSSQNV SPASKHIIPK
GKDEETASSS PELENLASGL APTLLLLSDD KNKPAVEVSS TAQGDFPSEK QDVALAELSL
EPEKKDKPHQ PLELPNAGSE FSSDLGRQSG SIGTKQAKSP ITETEDSVLE KGPAELRSRE
GKEENRELCA SSTMPAISEL SSLLREESQN EEIKPFSPKI ISLESKEPPA SVAEGGNPEE
FQPFTFSLKG LSEEVSHPAD FKKGGNQEIG PLPPTGNLKA QVMGDILDKL SEETGHPNSS
QVLQSITEPS KIAPSDLLVE QKKTEKALHS DQTVKLPDVS TSSEDKQDLG IKQFSLMREN
LPLEQSKSFM TTKPVDVKET KMEEFFISPK DENWMLGKPE NVASQHEQRI AGSVQLDSSS
SNELRPGQLK AAVSSKDHTC EVRKQVLPHS AEESHLSSQE AVSALDTSSG NTETLSSKSY
SSEEVKLAEE PKSLVLAGNV ERNIAEGKEI HSLMESESLL LEKANTELSW PSKEDSQEKI
KLPPERFFQK PVSGLSVEQV KSETISSSVK TAHFPAEGVE PALGNEKEAH RSTPPFPEEK
PLEESKMVQS KVIDDADEGK KPSPEVKIPT QRKPISSIHA REPQSPESPE VTQNPPTQPK
VAKPDLPEEK GKKGISSFKS WMSSLFFGSS TPDNKVAEQE DLETQPSPSV EKAVTVIDPE
GTIPTNFNVA EKPADHSLSE VKLKTADEPR GTLVKSGDGQ NVKEKSMILS NVEDLQQPKF
ISEVSREDYG KKEISGDSEE MNINSVVTSA DGENLEIQSY SLIGEKLVME EAKTIVPPHV
TDSKRVQKPA IAPPSKWNIS IFKEEPRSDQ KQKSLLSFDV VDKVPQQPKS ASSNFASKNI
TKESEKPESI ILPVEESKGS LIDFSEDRLK KEMQNPTSLK ISEEETKLRS VSPTEKKDNL
ENRSYTLAEK KVLAEKQNSV APLELRDSNE IGKTQITLGS RSTELKESKA DAMPQHFYQN
EDYNERPKII VGSEKEKGEE KENQVYVLSE GKKQQEHQPY SVNVAESMSR ESDISLGHSL
GETQSFSLVK ATSVTEKSEA MLAEAHPEIR EAKAVGTQPH PLEESKVLVE KTKTFLPVAL
SCRDEIENHS LSQEGNLVLE KSSRDMPDHS EEKEQFRESE LSKGGSVDIT KETVKQGFQE
KAVGTQPRPL EESKVLVEKT KTFLPVVLSC HDEIENHSLS QEGNLVLEKS SRDMPDHSEE
KEQFKESELW KGGSVDITKE SMKEGFPSKE SERTLARPFD ETKSSETPPY LLSPVKPQTL
ASGASPEINA VKKKEMPRSE LTPERHTVHT IQTSKDDTSD VPKQSVLVSK HHLEAAEDTR
VKEPLSSAKS NYAQFISNTS ASNADKMVSN KEMPKEPEDT YAKGEDFTVT SKPAGLSEDQ
KTAFSIISEG CEILNIHAPA FISSIDQEES EQMQDKLEYL EEKASFKTIP LPDDSETVAC
HKTLKSRLED EKVTPLKENK QKETHKTKEE ISTDSETDLS FIQPTIPSEE DYFEKYTLID
YNISPDPEKQ KAPQKLNVEE KLSKEVTEET ISFPVSSVES ALEHEYDLVK LDESFYGPEK
GHNILSHPET QSQNSADRNV SKDTKRDVDS KSPGMPLFEA EEGVLSRTQI FPTTIKVIDP
EFLEEPPALA FLYKDLYEEA VGEKKKEEET ASEGDSVNSE ASFPSRNSDT DDGTGIYFEK
YILKDDILHD TSLTQKDQGQ GLEEKRVGKD DSYQPIAAEG EIWGKFGTIC REKSLEEQKG
VYGEGESVDH VETVGNVAMQ KKAPITEDVR VATQKISYAV PFEDTHHVLE RADEAGSHGN
EVGNASPEVN LNVPVQVSFP EEEFASGATH VQETSLEEPK ILVPPEPSEE RLRNSPVQDE
YEFTESLHNE VVPQDILSEE LSSESTPEDV LSQGKESFEH ISENEFASEA EQSTPAEQKE
LGSERKEEDQ LSSEVVTEKA QKELKKSQID TYCYTCKCPI SATDKVFGTH KDHEVSTLDT
AISAVKVQLA EFLENLQEKS LRIEAFVSEI ESFFNTIEEN CSKNEKRLEE QNEEMMKKVL
AQYDEKAQSF EEVKKKKMEF LHEQMVHFLQ SMDTAKDTLE TIVREAEELD EAVFLTSFEE
INERLLSAME STASLEKMPA AFSLFEHYDD SSARSDQMLK QVAVPQPPRL EPQEPNSATS
TTIAVYWSMN KEDVIDSFQV YCMEEPQDDQ EVNELVEEYR LTVKESYCIF EDLEPDRCYQ
VWVMAVNFTG CSLPSERAIF RTAPSTPVIR AEDCTVCWNT ATIRWRPTTP EATETYTLEY
CRQHSPEGEG LRSFSGIKGL QLKVNLQPND NYFFYVRAIN AFGTSEQSEA ALISTRGTRF
LLLRETAHPA LHISSSGTVI SFGERRRLTE IPSVLGEELP SCGQHYWETT VTDCPAYRLG
ICSSSAVQAG ALGQGETSWY MHCSEPQRYT FFYSGIVSDV HVTERPARVG ILLDYNNQRL
IFINAESEQL LFIIRHRFNE GVHPAFALEK PGKCTLHLGI EPPDSVRHK*

speed

1.32 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems