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: ENST00000264382
MT speed 0 s - this script 2.904524 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SI	polymorphism_automatic	0.093544490179953	simple_aae		affected		T231A	single base exchange	rs9283633		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.906455509820047 (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)

chr3:164783165T>CN/A show variant in all transcripts IGV

HGNC symbol

Ensembl transcript ID

ENST00000264382

Genbank transcript ID

NM_001041

UniProt peptide

P14410

alteration type

single base exchange

alteration region

CDS

DNA changes

c.691A>G
cDNA.754A>G
g.13119A>G

AA changes

T231A Score: 58 explain score(s)

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

231

frameshift

known variant

Reference ID: rs9283633

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1015	1055	2070
ExAC	23017	-13267	9750

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.913	0.984
	0.882	0.799
(flanking)	-0.951	0.491

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
Acc marginally increased	13112	wt: 0.2526 / mu: 0.3367 (marginal change - not scored)	wt: TACTCTGACCAGTACTTACAGATCTCAACCCGTCTTCCAAG mu: TACTCTGACCAGTACTTACAGATCTCAGCCCGTCTTCCAAG	acag\|ATCT
Acc marginally increased	13130	wt: 0.6733 / mu: 0.7038 (marginal change - not scored)	wt: CAGATCTCAACCCGTCTTCCAAGTGATTATATTTATGGTAT mu: CAGATCTCAGCCCGTCTTCCAAGTGATTATATTTATGGTAT	tcca\|AGTG
Acc increased	13129	wt: 0.22 / mu: 0.28	wt: ACAGATCTCAACCCGTCTTCCAAGTGATTATATTTATGGTA mu: ACAGATCTCAGCCCGTCTTCCAAGTGATTATATTTATGGTA	ttcc\|AAGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

231

mutated

not conserved

231

Ptroglodytes

all identical

ENSPTRG00000015590

230

Mmulatta

all identical

ENSMMUG00000001302

231

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000027790

221

Ggallus

not conserved

ENSGALG00000009511

230

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075118

217

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
33	1827	TOPO_DOM	Lumenal.	lost
110	1007	REGION	Isomaltase.	lost
226	232	STRAND		lost
234	236	STRAND		might get lost (downstream of altered splice site)
237	237	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
238	244	STRAND		might get lost (downstream of altered splice site)
239	239	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
247	250	STRAND		might get lost (downstream of altered splice site)
254	261	STRAND		might get lost (downstream of altered splice site)
264	264	BINDING	Substrate.	might get lost (downstream of altered splice site)
278	284	STRAND		might get lost (downstream of altered splice site)
291	296	STRAND		might get lost (downstream of altered splice site)
300	300	CONFLICT	N -> D (in Ref. 3; AAI16453).	might get lost (downstream of altered splice site)
302	307	STRAND		might get lost (downstream of altered splice site)
308	310	TURN		might get lost (downstream of altered splice site)
311	319	STRAND		might get lost (downstream of altered splice site)
321	330	STRAND		might get lost (downstream of altered splice site)
331	342	HELIX		might get lost (downstream of altered splice site)
350	353	HELIX		might get lost (downstream of altered splice site)
365	377	HELIX		might get lost (downstream of altered splice site)
384	387	STRAND		might get lost (downstream of altered splice site)
388	388	BINDING	Substrate.	might get lost (downstream of altered splice site)
389	391	HELIX		might get lost (downstream of altered splice site)
391	391	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
393	395	HELIX		might get lost (downstream of altered splice site)
400	400	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
402	407	TURN		might get lost (downstream of altered splice site)
408	417	HELIX		might get lost (downstream of altered splice site)
421	426	STRAND		might get lost (downstream of altered splice site)
437	437	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
442	450	HELIX		might get lost (downstream of altered splice site)
455	455	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
459	462	STRAND		might get lost (downstream of altered splice site)
460	460	CONFLICT	S -> I (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
465	467	STRAND		might get lost (downstream of altered splice site)
470	473	STRAND		might get lost (downstream of altered splice site)
475	475	CONFLICT	P -> S (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
480	496	HELIX		might get lost (downstream of altered splice site)
500	504	STRAND		might get lost (downstream of altered splice site)
505	505	ACT_SITE	Nucleophile; for isomaltase activity.	might get lost (downstream of altered splice site)
507	509	TURN		might get lost (downstream of altered splice site)
512	515	STRAND		might get lost (downstream of altered splice site)
520	520	DISULFID		might get lost (downstream of altered splice site)
524	526	TURN		might get lost (downstream of altered splice site)
535	537	HELIX		might get lost (downstream of altered splice site)
539	542	TURN		might get lost (downstream of altered splice site)
545	545	DISULFID		might get lost (downstream of altered splice site)
548	548	CONFLICT	A -> V (in Ref. 3; AAI16453).	might get lost (downstream of altered splice site)
555	558	HELIX		might get lost (downstream of altered splice site)
559	561	HELIX		might get lost (downstream of altered splice site)
562	577	HELIX		might get lost (downstream of altered splice site)
584	584	CONFLICT	F -> L (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
585	588	STRAND		might get lost (downstream of altered splice site)
588	588	BINDING	Substrate.	might get lost (downstream of altered splice site)
588	588	CONFLICT	R -> C (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
594	596	HELIX		might get lost (downstream of altered splice site)
599	601	STRAND		might get lost (downstream of altered splice site)
604	604	ACT_SITE	For isomaltase activity.	might get lost (downstream of altered splice site)
606	608	STRAND		might get lost (downstream of altered splice site)
609	624	HELIX		might get lost (downstream of altered splice site)
629	631	STRAND		might get lost (downstream of altered splice site)
633	633	CONFLICT	D -> A (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
635	635	DISULFID		might get lost (downstream of altered splice site)
637	639	STRAND		might get lost (downstream of altered splice site)
643	653	HELIX		might get lost (downstream of altered splice site)
646	646	DISULFID		might get lost (downstream of altered splice site)
656	658	STRAND		might get lost (downstream of altered splice site)
662	662	BINDING	Substrate.	might get lost (downstream of altered splice site)
667	667	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
672	675	HELIX		might get lost (downstream of altered splice site)
680	694	HELIX		might get lost (downstream of altered splice site)
687	687	CONFLICT	Q -> R (in Ref. 3; AAI16453).	might get lost (downstream of altered splice site)
696	709	HELIX		might get lost (downstream of altered splice site)
713	715	STRAND		might get lost (downstream of altered splice site)
718	721	HELIX		might get lost (downstream of altered splice site)
725	729	HELIX		might get lost (downstream of altered splice site)
732	736	STRAND		might get lost (downstream of altered splice site)
737	739	TURN		might get lost (downstream of altered splice site)
740	743	STRAND		might get lost (downstream of altered splice site)
751	757	STRAND		might get lost (downstream of altered splice site)
762	764	STRAND		might get lost (downstream of altered splice site)
763	763	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
765	765	MOD_RES	Sulfotyrosine (Potential).	might get lost (downstream of altered splice site)
765	767	TURN		might get lost (downstream of altered splice site)
775	781	STRAND		might get lost (downstream of altered splice site)
788	792	STRAND		might get lost (downstream of altered splice site)
795	800	STRAND		might get lost (downstream of altered splice site)
806	809	HELIX		might get lost (downstream of altered splice site)
814	819	STRAND		might get lost (downstream of altered splice site)
823	823	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
824	832	STRAND		might get lost (downstream of altered splice site)
835	837	STRAND		might get lost (downstream of altered splice site)
840	843	HELIX		might get lost (downstream of altered splice site)
846	854	STRAND		might get lost (downstream of altered splice site)
855	855	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
857	865	STRAND		might get lost (downstream of altered splice site)
868	872	HELIX		might get lost (downstream of altered splice site)
874	882	STRAND		might get lost (downstream of altered splice site)
884	884	CONFLICT	T -> A (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
890	894	STRAND		might get lost (downstream of altered splice site)
900	902	STRAND		might get lost (downstream of altered splice site)
904	904	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
905	908	STRAND		might get lost (downstream of altered splice site)
909	912	TURN		might get lost (downstream of altered splice site)
913	916	STRAND		might get lost (downstream of altered splice site)
926	926	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
927	930	STRAND		might get lost (downstream of altered splice site)
932	978	DOMAIN	P-type 2.	might get lost (downstream of altered splice site)
1008	1827	REGION	Sucrase.	might get lost (downstream of altered splice site)
1016	1016	CONFLICT	S -> E (in Ref. 5; AA sequence).	might get lost (downstream of altered splice site)
1022	1022	CONFLICT	V -> T (in Ref. 5; AA sequence).	might get lost (downstream of altered splice site)
1155	1155	CONFLICT	A -> V (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
1203	1203	CONFLICT	E -> Q (in Ref. 1; CAA45140).	might get lost (downstream of altered splice site)
1235	1235	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1303	1303	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1340	1340	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1354	1354	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1394	1394	ACT_SITE	Nucleophile; for sucrase activity.	might get lost (downstream of altered splice site)
1397	1397	ACT_SITE	For sucrase activity (By similarity).	might get lost (downstream of altered splice site)
1403	1403	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1500	1500	ACT_SITE	Proton donor; for isomaltase activity (By similarity).	might get lost (downstream of altered splice site)
1535	1535	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1572	1572	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1675	1675	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1748	1748	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1763	1763	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1782	1782	CONFLICT	V -> I (in Ref. 3; AAI15035).	might get lost (downstream of altered splice site)
1815	1815	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1825	1825	CONFLICT	N -> S (in Ref. 3; AAI16453).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5484 / 5484

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

1828 / 1828

position of stopcodon in wt / mu cDNA

5547 / 5547

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

64 / 64

chromosome

strand

-1

last intron/exon boundary

5479

theoretical NMD boundary in CDS

5365

length of CDS

5484

coding sequence (CDS) position

691

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

754

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

13119

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

164783165

original gDNA sequence snippet

ACCAGTACTTACAGATCTCAACCCGTCTTCCAAGTGATTAT

altered gDNA sequence snippet

ACCAGTACTTACAGATCTCAGCCCGTCTTCCAAGTGATTAT

original cDNA sequence snippet

ACCAGTACTTACAGATCTCAACCCGTCTTCCAAGTGATTAT

altered cDNA sequence snippet

ACCAGTACTTACAGATCTCAGCCCGTCTTCCAAGTGATTAT

wildtype AA sequence

MARKKFSGLE ISLIVLFVIV TIIAIALIVV LATKTPAVDE ISDSTSTPAT TRVTTNPSDS
GKCPNVLNDP VNVRINCIPE QFPTEGICAQ RGCCWRPWND SLIPWCFFVD NHGYNVQDMT
TTSIGVEAKL NRIPSPTLFG NDINSVLFTT QNQTPNRFRF KITDPNNRRY EVPHQYVKEF
TGPTVSDTLY DVKVAQNPFS IQVIRKSNGK TLFDTSIGPL VYSDQYLQIS TRLPSDYIYG
IGEQVHKRFR HDLSWKTWPI FTRDQLPGDN NNNLYGHQTF FMCIEDTSGK SFGVFLMNSN
AMEIFIQPTP IVTYRVTGGI LDFYILLGDT PEQVVQQYQQ LVGLPAMPAY WNLGFQLSRW
NYKSLDVVKE VVRRNREAGI PFDTQVTDID YMEDKKDFTY DQVAFNGLPQ FVQDLHDHGQ
KYVIILDPAI SIGRRANGTT YATYERGNTQ HVWINESDGS TPIIGEVWPG LTVYPDFTNP
NCIDWWANEC SIFHQEVQYD GLWIDMNEVS SFIQGSTKGC NVNKLNYPPF TPDILDKLMY
SKTICMDAVQ NWGKQYDVHS LYGYSMAIAT EQAVQKVFPN KRSFILTRST FAGSGRHAAH
WLGDNTASWE QMEWSITGML EFSLFGIPLV GADICGFVAE TTEELCRRWM QLGAFYPFSR
NHNSDGYEHQ DPAFFGQNSL LVKSSRQYLT IRYTLLPFLY TLFYKAHVFG ETVARPVLHE
FYEDTNSWIE DTEFLWGPAL LITPVLKQGA DTVSAYIPDA IWYDYESGAK RPWRKQRVDM
YLPADKIGLH LRGGYIIPIQ EPDVTTTASR KNPLGLIVAL GENNTAKGDF FWDDGETKDT
IQNGNYILYT FSVSNNTLDI VCTHSSYQEG TTLAFQTVKI LGLTDSVTEV RVAENNQPMN
AHSNFTYDAS NQVLLIADLK LNLGRNFSVQ WNQIFSENER FNCYPDADLA TEQKCTQRGC
VWRTGSSLSK APECYFPRQD NSYSVNSARY SSMGITADLQ LNTANARIKL PSDPISTLRV
EVKYHKNDML QFKIYDPQKK RYEVPVPLNI PTTPISTYED RLYDVEIKEN PFGIQIRRRS
SGRVIWDSWL PGFAFNDQFI QISTRLPSEY IYGFGEVEHT AFKRDLNWNT WGMFTRDQPP
GYKLNSYGFH PYYMALEEEG NAHGVFLLNS NAMDVTFQPT PALTYRTVGG ILDFYMFLGP
TPEVATKQYH EVIGHPVMPA YWALGFQLCR YGYANTSEVR ELYDAMVAAN IPYDVQYTDI
DYMERQLDFT IGEAFQDLPQ FVDKIRGEGM RYIIILDPAI SGNETKTYPA FERGQQNDVF
VKWPNTNDIC WAKVWPDLPN ITIDKTLTED EAVNASRAHV AFPDFFRTST AEWWAREIVD
FYNEKMKFDG LWIDMNEPSS FVNGTTTNQC RNDELNYPPY FPELTKRTDG LHFRTICMEA
EQILSDGTSV LHYDVHNLYG WSQMKPTHDA LQKTTGKRGI VISRSTYPTS GRWGGHWLGD
NYARWDNMDK SIIGMMEFSL FGMSYTGADI CGFFNNSEYH LCTRWMQLGA FYPYSRNHNI
ANTRRQDPAS WNETFAEMSR NILNIRYTLL PYFYTQMHEI HANGGTVIRP LLHEFFDEKP
TWDIFKQFLW GPAFMVTPVL EPYVQTVNAY VPNARWFDYH TGKDIGVRGQ FQTFNASYDT
INLHVRGGHI LPCQEPAQNT FYSRQKHMKL IVAADDNQMA QGSLFWDDGE SIDTYERDLY
LSVQFNLNQT TLTSTILKRG YINKSETRLG SLHVWGKGTT PVNAVTLTYN GNKNSLPFNE
DTTNMILRID LTTHNVTLEE PIEINWS*

mutated AA sequence

MARKKFSGLE ISLIVLFVIV TIIAIALIVV LATKTPAVDE ISDSTSTPAT TRVTTNPSDS
GKCPNVLNDP VNVRINCIPE QFPTEGICAQ RGCCWRPWND SLIPWCFFVD NHGYNVQDMT
TTSIGVEAKL NRIPSPTLFG NDINSVLFTT QNQTPNRFRF KITDPNNRRY EVPHQYVKEF
TGPTVSDTLY DVKVAQNPFS IQVIRKSNGK TLFDTSIGPL VYSDQYLQIS ARLPSDYIYG
IGEQVHKRFR HDLSWKTWPI FTRDQLPGDN NNNLYGHQTF FMCIEDTSGK SFGVFLMNSN
AMEIFIQPTP IVTYRVTGGI LDFYILLGDT PEQVVQQYQQ LVGLPAMPAY WNLGFQLSRW
NYKSLDVVKE VVRRNREAGI PFDTQVTDID YMEDKKDFTY DQVAFNGLPQ FVQDLHDHGQ
KYVIILDPAI SIGRRANGTT YATYERGNTQ HVWINESDGS TPIIGEVWPG LTVYPDFTNP
NCIDWWANEC SIFHQEVQYD GLWIDMNEVS SFIQGSTKGC NVNKLNYPPF TPDILDKLMY
SKTICMDAVQ NWGKQYDVHS LYGYSMAIAT EQAVQKVFPN KRSFILTRST FAGSGRHAAH
WLGDNTASWE QMEWSITGML EFSLFGIPLV GADICGFVAE TTEELCRRWM QLGAFYPFSR
NHNSDGYEHQ DPAFFGQNSL LVKSSRQYLT IRYTLLPFLY TLFYKAHVFG ETVARPVLHE
FYEDTNSWIE DTEFLWGPAL LITPVLKQGA DTVSAYIPDA IWYDYESGAK RPWRKQRVDM
YLPADKIGLH LRGGYIIPIQ EPDVTTTASR KNPLGLIVAL GENNTAKGDF FWDDGETKDT
IQNGNYILYT FSVSNNTLDI VCTHSSYQEG TTLAFQTVKI LGLTDSVTEV RVAENNQPMN
AHSNFTYDAS NQVLLIADLK LNLGRNFSVQ WNQIFSENER FNCYPDADLA TEQKCTQRGC
VWRTGSSLSK APECYFPRQD NSYSVNSARY SSMGITADLQ LNTANARIKL PSDPISTLRV
EVKYHKNDML QFKIYDPQKK RYEVPVPLNI PTTPISTYED RLYDVEIKEN PFGIQIRRRS
SGRVIWDSWL PGFAFNDQFI QISTRLPSEY IYGFGEVEHT AFKRDLNWNT WGMFTRDQPP
GYKLNSYGFH PYYMALEEEG NAHGVFLLNS NAMDVTFQPT PALTYRTVGG ILDFYMFLGP
TPEVATKQYH EVIGHPVMPA YWALGFQLCR YGYANTSEVR ELYDAMVAAN IPYDVQYTDI
DYMERQLDFT IGEAFQDLPQ FVDKIRGEGM RYIIILDPAI SGNETKTYPA FERGQQNDVF
VKWPNTNDIC WAKVWPDLPN ITIDKTLTED EAVNASRAHV AFPDFFRTST AEWWAREIVD
FYNEKMKFDG LWIDMNEPSS FVNGTTTNQC RNDELNYPPY FPELTKRTDG LHFRTICMEA
EQILSDGTSV LHYDVHNLYG WSQMKPTHDA LQKTTGKRGI VISRSTYPTS GRWGGHWLGD
NYARWDNMDK SIIGMMEFSL FGMSYTGADI CGFFNNSEYH LCTRWMQLGA FYPYSRNHNI
ANTRRQDPAS WNETFAEMSR NILNIRYTLL PYFYTQMHEI HANGGTVIRP LLHEFFDEKP
TWDIFKQFLW GPAFMVTPVL EPYVQTVNAY VPNARWFDYH TGKDIGVRGQ FQTFNASYDT
INLHVRGGHI LPCQEPAQNT FYSRQKHMKL IVAADDNQMA QGSLFWDDGE SIDTYERDLY
LSVQFNLNQT TLTSTILKRG YINKSETRLG SLHVWGKGTT PVNAVTLTYN GNKNSLPFNE
DTTNMILRID LTTHNVTLEE PIEINWS*

speed

0.83 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