MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000376087
Querying Taster for transcript #2: ENST00000436985
Querying Taster for transcript #3: ENST00000376070
MT speed 0 s - this script 5.106608 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANKRD26	polymorphism_automatic	2.34601227333542e-12	simple_aae		affected		V1305I	single base exchange	rs10829163		show file
ANKRD26	polymorphism_automatic	2.34601227333542e-12	simple_aae		affected		V1321I	single base exchange	rs10829163		show file
ANKRD26	polymorphism_automatic	2.34601227333542e-12	simple_aae		affected		V862I	single base exchange	rs10829163		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997654 (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)

chr10:27317840C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD26

Ensembl transcript ID

ENST00000376087

Genbank transcript ID

NM_001256053

UniProt peptide

Q9UPS8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3913G>A
cDNA.4079G>A
g.71582G>A

AA changes

V1305I Score: 29 explain score(s)

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

1305

frameshift

known variant

Reference ID: rs10829163

database	homozygous (T/T)	heterozygous	allele carriers
1000G	312	965	1277
ExAC	3685	19190	22875

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.704	0.326
	-0.297	0.323
(flanking)	0.466	0.617

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	71584	wt: 0.59 / mu: 0.82	wt: ACAGTCAAAAAGCAA mu: ACAATCAAAAAGCAA	AGTC\|aaaa
Donor gained	71582	0.40	mu: TTACAATCAAAAAGC	ACAA\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1305

mutated

all conserved

1305

Ptroglodytes

all conserved

ENSPTRG00000002376

1306

Mmulatta

all conserved

ENSMMUG00000016403

1294

Fcatus

all conserved

ENSFCAG00000014236

1085

Mmusculus

all conserved

ENSMUSG00000007827

1277

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016302

1194

Drerio

not conserved

ENSDARG00000013015

1753

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021831

1305

protein features

start (aa)	end (aa)	feature	details
904	1471	COILED	Potential.	lost
1346	1346	CONFLICT	D -> G (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1390	1390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1516	1522	CONFLICT	NNFASMK -> KQDLPDS (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1516	1586	COILED	Potential.	might get lost (downstream of altered splice site)
1648	1673	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5133 / 5133

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

1711 / 1711

position of stopcodon in wt / mu cDNA

5299 / 5299

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

167 / 167

chromosome

strand

-1

last intron/exon boundary

5166

theoretical NMD boundary in CDS

4949

length of CDS

5133

coding sequence (CDS) position

3913

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

4079

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

71582

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

27317840

original gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

original cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

wildtype AA sequence

MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSRLSG KPGVDDSWPT SDDEDLNFDT KNVPKPSLAK LMTASQQSRK NLEATYGTVR
TGNRTLFEDR DSDSQDEVVV ESLPTTSIKV QCFSHPTYQS PDLLPKPSHK SLANPGLMKE
EPTKPGIAKK ENGIDIIESA PLEQTNNDNL TYVDEVHKNN RSDMMSALGL GQEEDIESPW
DSESISENFP QKYVDPLAGA ADGKEKNIGN EQAEDVFYIP SCMSGSRNFK MAKLEDTRNV
GMPVAHMESP ERYLHLKPTI EMKDSVPNKA GGMKDVQTSK AAEHDLEVAS EEEQEREGSE
NNQPQVEEER KKHRNNEMEV SANIHDGATD DAEDDDDDDG LIQKRKSGET DHQQFPRKEN
KEYASSGPAL QMKEVKSTEK EKRTSKESVN SPVFGKASLL TGGLLQVDDD SSLSEIDEDE
GRPTKKTSNE KNKVKNQIQS MDDVDDLTQS SETASEDCEL PHSSYKNFML LIEQLGMECK
DSVSLLKIQD AALSCERLLE LKKNHCELLT VKIKKMEDKV NVLQRELSET KEIKSQLEHQ
KVEWERELCS LRFSLNQEEE KRRNADTLYE KIREQLRRKE EQYRKEVEVK QQLELSLQTL
EMELRTVKSN LNQVVQERND AQRQLSREQN ARMLQDGILT NHLSKQKEIE MAQKKMNSEN
SHSHEEEKDL SHKNSMLQEE IAMLRLEIDT IKNQNQEKEK KCFEDLKIVK EKNEDLQKTI
KQNEETLTQT ISQYNGRLSV LTAENAMLNS KLENEKQSKE RLEAEVESYH SRLAAAIHDR
DQSETSKREL ELAFQRARDE CSRLQDKMNF DVSNLKDNNE ILSQQLFKTE SKLNSLEIEF
HHTRDALREK TLGLERVQKD LSQTQCQMKE MEQKYQNEQV KVNKYIGKQE SVEERLSQLQ
SENMLLRQQL DDAHNKADNK EKTVINIQDQ FHAIVQKLQA ESEKQSLLLE ERNKELISEC
NHLKERQYQY ENEKAEREVV VRQLQQELAD TLKKQSMSEA SLEVTSRYRI NLEDETQDLK
KKLGQIRNQL QEAQDRHTEA VRCAEKMQDH KQKLEKDNAK LKVTVKKQMD KIEELQKNLL
NANLSEDEKE QLKKLMELKQ SLECNLDQEM KKNVELEREI TGFKNLLKMT RKKLNEYENG
EFSFHGDLKT SQFEMDIQIN KLKHKIDDLT AELETAGSKC LHLDTKNQIL QEELLSMKTV
QKKCEKLQKN KKKLEQEVIN LRSHIERNMV ELGQVKQYKQ EIEERARQEI AEKLKEVNLF
LQAQAASQEN LEQFRENNFA SMKSQMELRI KDLESELSKI KTSQEDFNKT ELEKYKQLYL
EELKVRKSLS SKLTKTNERL AEVNTKLLVE KQQSRSLFTT LTTRPVMEPP CVGNLNNSLD
LNRKLIPREN LVISTSNPRA SNNSMENYLS KMQQELEKNI TRELKEAAAE LESGSIASPL
GSTDESNLNQ DLVWKASREY VQVLKKNYMI *

mutated AA sequence

MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSRLSG KPGVDDSWPT SDDEDLNFDT KNVPKPSLAK LMTASQQSRK NLEATYGTVR
TGNRTLFEDR DSDSQDEVVV ESLPTTSIKV QCFSHPTYQS PDLLPKPSHK SLANPGLMKE
EPTKPGIAKK ENGIDIIESA PLEQTNNDNL TYVDEVHKNN RSDMMSALGL GQEEDIESPW
DSESISENFP QKYVDPLAGA ADGKEKNIGN EQAEDVFYIP SCMSGSRNFK MAKLEDTRNV
GMPVAHMESP ERYLHLKPTI EMKDSVPNKA GGMKDVQTSK AAEHDLEVAS EEEQEREGSE
NNQPQVEEER KKHRNNEMEV SANIHDGATD DAEDDDDDDG LIQKRKSGET DHQQFPRKEN
KEYASSGPAL QMKEVKSTEK EKRTSKESVN SPVFGKASLL TGGLLQVDDD SSLSEIDEDE
GRPTKKTSNE KNKVKNQIQS MDDVDDLTQS SETASEDCEL PHSSYKNFML LIEQLGMECK
DSVSLLKIQD AALSCERLLE LKKNHCELLT VKIKKMEDKV NVLQRELSET KEIKSQLEHQ
KVEWERELCS LRFSLNQEEE KRRNADTLYE KIREQLRRKE EQYRKEVEVK QQLELSLQTL
EMELRTVKSN LNQVVQERND AQRQLSREQN ARMLQDGILT NHLSKQKEIE MAQKKMNSEN
SHSHEEEKDL SHKNSMLQEE IAMLRLEIDT IKNQNQEKEK KCFEDLKIVK EKNEDLQKTI
KQNEETLTQT ISQYNGRLSV LTAENAMLNS KLENEKQSKE RLEAEVESYH SRLAAAIHDR
DQSETSKREL ELAFQRARDE CSRLQDKMNF DVSNLKDNNE ILSQQLFKTE SKLNSLEIEF
HHTRDALREK TLGLERVQKD LSQTQCQMKE MEQKYQNEQV KVNKYIGKQE SVEERLSQLQ
SENMLLRQQL DDAHNKADNK EKTVINIQDQ FHAIVQKLQA ESEKQSLLLE ERNKELISEC
NHLKERQYQY ENEKAEREVV VRQLQQELAD TLKKQSMSEA SLEVTSRYRI NLEDETQDLK
KKLGQIRNQL QEAQDRHTEA VRCAEKMQDH KQKLEKDNAK LKVTIKKQMD KIEELQKNLL
NANLSEDEKE QLKKLMELKQ SLECNLDQEM KKNVELEREI TGFKNLLKMT RKKLNEYENG
EFSFHGDLKT SQFEMDIQIN KLKHKIDDLT AELETAGSKC LHLDTKNQIL QEELLSMKTV
QKKCEKLQKN KKKLEQEVIN LRSHIERNMV ELGQVKQYKQ EIEERARQEI AEKLKEVNLF
LQAQAASQEN LEQFRENNFA SMKSQMELRI KDLESELSKI KTSQEDFNKT ELEKYKQLYL
EELKVRKSLS SKLTKTNERL AEVNTKLLVE KQQSRSLFTT LTTRPVMEPP CVGNLNNSLD
LNRKLIPREN LVISTSNPRA SNNSMENYLS KMQQELEKNI TRELKEAAAE LESGSIASPL
GSTDESNLNQ DLVWKASREY VQVLKKNYMI *

speed

1.35 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997654 (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)

chr10:27317840C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD26

Ensembl transcript ID

ENST00000436985

Genbank transcript ID

N/A

UniProt peptide

Q9UPS8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3961G>A
cDNA.4026G>A
g.71582G>A

AA changes

V1321I Score: 29 explain score(s)

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

1321

frameshift

known variant

Reference ID: rs10829163

database	homozygous (T/T)	heterozygous	allele carriers
1000G	312	965	1277
ExAC	3685	19190	22875

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.704	0.326
	-0.297	0.323
(flanking)	0.466	0.617

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	71584	wt: 0.59 / mu: 0.82	wt: ACAGTCAAAAAGCAA mu: ACAATCAAAAAGCAA	AGTC\|aaaa
Donor gained	71582	0.40	mu: TTACAATCAAAAAGC	ACAA\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1321

mutated

all conserved

1321

Ptroglodytes

all conserved

ENSPTRG00000002376

1306

Mmulatta

all conserved

ENSMMUG00000016403

1294

Fcatus

all conserved

ENSFCAG00000014236

1085

Mmusculus

all conserved

ENSMUSG00000007827

1277

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016302

1193

Drerio

not conserved

ENSDARG00000013015

1779

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021831

1305

protein features

start (aa)	end (aa)	feature	details
904	1471	COILED	Potential.	lost
1346	1346	CONFLICT	D -> G (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1390	1390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1516	1522	CONFLICT	NNFASMK -> KQDLPDS (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1516	1586	COILED	Potential.	might get lost (downstream of altered splice site)
1648	1673	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5181 / 5181

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

1727 / 1727

position of stopcodon in wt / mu cDNA

5246 / 5246

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

66 / 66

chromosome

strand

-1

last intron/exon boundary

5113

theoretical NMD boundary in CDS

4997

length of CDS

5181

coding sequence (CDS) position

3961

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

4026

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

71582

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

27317840

original gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

original cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

wildtype AA sequence

MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSSLFY FIFFETKSCT VAQAGVLQHD LSSLQSLLPG FTQFFCLHLP SSWDHRLSGK
PGVDDSWPTS DDEDLNFDTK NVPKPSLAKL MTASQQSRKN LEATYGTVRT GNRTLFEDRD
SDSQDEVVVE SLPTTSIKVQ CFSHPTYQSP DLLPKPSHKS LANPGLMKEE PTKPGIAKKE
NGIDIIESAP LEQTNNDNLT YVDEVHKNNR SDMMSALGLG QEEDIESPWD SESISENFPQ
KYVDPLAGAA DGKEKNIGNE QAEESPERYL HLKPTIEMKD SVPNKAGGMK DVQTSKAAEH
DLEVASEEEQ EREGSENNQP QVEEERKKHR NNEMEVSANI HDGATDDAED DDDDDGLIQK
RKSGETDHQQ FPRKENKEYA SSGPALQMKE VKSTEKEKRT SKESVNSPVF GKASLLTGGL
LQVDDDSSLS EIDEDEGRPT KKTSNEKNKV KNQIQSMDDV DDLTQSSETA SEDCELPHSS
YKNFMLLIEQ LGMECKDSVS LLKIQDAALS CERLLELKKN HCELLTVKIK KMEDKVNVLQ
RELSETKEIK SQLEHQKVEW ERELCSLRFS LNQEEEKRRN ADTLYEKIRE QLRRKEEQYR
KEVEVKQQLE LSLQTLEMEL RTVKSNLNQV VQERNDAQRQ LSREQNARML QDGILTNHLS
KQKEIEMAQK KMNSENSHSH EEEKDLSHKN SMLQEEIAML RLEIDTIKNQ NQEKEKKCFE
DLKIVKEKNE DLQKTIKQNE ETLTQTISQY NGRLSVLTAE NAMLNSKLEN EKQSKERLEA
EVESYHSRLA AAIHDRDQSE TSKRELELAF QRARDECSRL QDKMNFDVSN LKDNNEILSQ
QLFKTESKLN SLEIEFHHTR DALREKTLGL ERVQKDLSQT QCQMKEMEQK YQNEQVKVNK
YIGKQESVEE RLSQLQSENM LLRQQLDDAH NKADNKEKTV INIQDQFHAI VQKLQAESEK
QSLLLEERNK ELISECNHLK ERQYQYENEK AEREVVVRQL QQELADTLKK QSMSEASLEV
TSRYRINLED ETQDLKKKLG QIRNQLQEAQ DRHTEAVRCA EKMQDHKQKL EKDNAKLKVT
VKKQMDKIEE LQKNLLNANL SEDEKEQLKK LMELKQSLEC NLDQEMKKNV ELEREITGFK
NLLKMTRKKL NEYENGEFSF HGDLKTSQFE MDIQINKLKH KIDDLTAELE TAGSKCLHLD
TKNQILQEEL LSMKTVQKKC EKLQKNKKKL EQEVINLRSH IERNMVELGQ VKQYKQEIEE
RARQEIAEKL KEVNLFLQAQ AASQENLEQF RENNFASMKS QMELRIKDLE SELSKIKTSQ
EDFNKTELEK YKQLYLEELK VRKSLSSKLT KTNERLAEVN TKLLVEKQQS RSLFTTLTTR
PVMEPPCVGN LNNSLDLNRK LIPRENLVIS TSNPRASNNS MENYLSKMQQ ELEKNITREL
KEAAAELESG SIASPLGSTD ESNLNQDLVW KASREYVQVL KKNYMI*

mutated AA sequence

MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSSLFY FIFFETKSCT VAQAGVLQHD LSSLQSLLPG FTQFFCLHLP SSWDHRLSGK
PGVDDSWPTS DDEDLNFDTK NVPKPSLAKL MTASQQSRKN LEATYGTVRT GNRTLFEDRD
SDSQDEVVVE SLPTTSIKVQ CFSHPTYQSP DLLPKPSHKS LANPGLMKEE PTKPGIAKKE
NGIDIIESAP LEQTNNDNLT YVDEVHKNNR SDMMSALGLG QEEDIESPWD SESISENFPQ
KYVDPLAGAA DGKEKNIGNE QAEESPERYL HLKPTIEMKD SVPNKAGGMK DVQTSKAAEH
DLEVASEEEQ EREGSENNQP QVEEERKKHR NNEMEVSANI HDGATDDAED DDDDDGLIQK
RKSGETDHQQ FPRKENKEYA SSGPALQMKE VKSTEKEKRT SKESVNSPVF GKASLLTGGL
LQVDDDSSLS EIDEDEGRPT KKTSNEKNKV KNQIQSMDDV DDLTQSSETA SEDCELPHSS
YKNFMLLIEQ LGMECKDSVS LLKIQDAALS CERLLELKKN HCELLTVKIK KMEDKVNVLQ
RELSETKEIK SQLEHQKVEW ERELCSLRFS LNQEEEKRRN ADTLYEKIRE QLRRKEEQYR
KEVEVKQQLE LSLQTLEMEL RTVKSNLNQV VQERNDAQRQ LSREQNARML QDGILTNHLS
KQKEIEMAQK KMNSENSHSH EEEKDLSHKN SMLQEEIAML RLEIDTIKNQ NQEKEKKCFE
DLKIVKEKNE DLQKTIKQNE ETLTQTISQY NGRLSVLTAE NAMLNSKLEN EKQSKERLEA
EVESYHSRLA AAIHDRDQSE TSKRELELAF QRARDECSRL QDKMNFDVSN LKDNNEILSQ
QLFKTESKLN SLEIEFHHTR DALREKTLGL ERVQKDLSQT QCQMKEMEQK YQNEQVKVNK
YIGKQESVEE RLSQLQSENM LLRQQLDDAH NKADNKEKTV INIQDQFHAI VQKLQAESEK
QSLLLEERNK ELISECNHLK ERQYQYENEK AEREVVVRQL QQELADTLKK QSMSEASLEV
TSRYRINLED ETQDLKKKLG QIRNQLQEAQ DRHTEAVRCA EKMQDHKQKL EKDNAKLKVT
IKKQMDKIEE LQKNLLNANL SEDEKEQLKK LMELKQSLEC NLDQEMKKNV ELEREITGFK
NLLKMTRKKL NEYENGEFSF HGDLKTSQFE MDIQINKLKH KIDDLTAELE TAGSKCLHLD
TKNQILQEEL LSMKTVQKKC EKLQKNKKKL EQEVINLRSH IERNMVELGQ VKQYKQEIEE
RARQEIAEKL KEVNLFLQAQ AASQENLEQF RENNFASMKS QMELRIKDLE SELSKIKTSQ
EDFNKTELEK YKQLYLEELK VRKSLSSKLT KTNERLAEVN TKLLVEKQQS RSLFTTLTTR
PVMEPPCVGN LNNSLDLNRK LIPRENLVIS TSNPRASNNS MENYLSKMQQ ELEKNITREL
KEAAAELESG SIASPLGSTD ESNLNQDLVW KASREYVQVL KKNYMI*

speed

1.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997654 (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)

chr10:27317840C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD26

Ensembl transcript ID

ENST00000376070

Genbank transcript ID

N/A

UniProt peptide

Q9UPS8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2584G>A
cDNA.2584G>A
g.71582G>A

AA changes

V862I Score: 29 explain score(s)

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

862

frameshift

known variant

Reference ID: rs10829163

database	homozygous (T/T)	heterozygous	allele carriers
1000G	312	965	1277
ExAC	3685	19190	22875

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.704	0.326
	-0.297	0.323
(flanking)	0.466	0.617

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	71584	wt: 0.59 / mu: 0.82	wt: ACAGTCAAAAAGCAA mu: ACAATCAAAAAGCAA	AGTC\|aaaa
Donor gained	71582	0.40	mu: TTACAATCAAAAAGC	ACAA\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

862

mutated

all conserved

862

Ptroglodytes

all conserved

ENSPTRG00000002376

1306

Mmulatta

all conserved

ENSMMUG00000016403

1294

Fcatus

all conserved

ENSFCAG00000014236

1085

Mmusculus

all conserved

ENSMUSG00000007827

1277

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016302

1193

Drerio

not conserved

ENSDARG00000013015

1744

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021831

1304

protein features

start (aa)	end (aa)	feature	details
742	872	COILED	Potential.	lost
904	1471	COILED	Potential.	might get lost (downstream of altered splice site)
1346	1346	CONFLICT	D -> G (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1390	1390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1516	1522	CONFLICT	NNFASMK -> KQDLPDS (in Ref. 3; BAC87508).	might get lost (downstream of altered splice site)
1516	1586	COILED	Potential.	might get lost (downstream of altered splice site)
1648	1673	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3804 / 3804

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

1268 / 1268

position of stopcodon in wt / mu cDNA

3804 / 3804

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

3671

theoretical NMD boundary in CDS

3620

length of CDS

3804

coding sequence (CDS) position

2584

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

2584

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

71582

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

27317840

original gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered gDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

original cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA

altered cDNA sequence snippet

ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA

wildtype AA sequence

MNHMFHIKRH SISAGTDAYK KTKPIQNLFQ KPLYDHCSAN NYKSMEPELE NVRSSPPRGD
RTSKVSLKEE LQQDMQRFKN EIGMLKVEFQ ALEKEKVQLQ KEVEEERKKH RNNEMEVSAN
IHDGATDDAE DDDDDDGLIQ KRKSGETDHQ QFPRKENKEY ASSGPALQMK EVKSTEKEKR
TSKESVNSPV FGKASLLTGG LLQVDDDSSL SEIDEDEGRP TKKTSNEKNK VKNQIQSMDD
VDDLTQSSET ASEDCELPHS SYKNFMLLIE QLGMECKDSV SLLKIQDAAL SCERLLELKK
NHCELLTVKI KKMEDKVNVL QRELSETKEI KSQLEHQKVE WERELCSLRF SLNQEEEKRR
NADTLYEKIR EQLRRKEEQY RKEVEVKQQL ELSLQTLEME LRTVKSNLNQ VVQERNDAQR
QLSREQNARM LQDGILTNHL SKQKEIEMAQ KKMNSENSHS HEEEKDLSHK NSMLQEEIAM
LRLEIDTIKN QNQEKEKKCF EDLKIVKEKN EDLQKTIKQN EETLTQTISQ YNGRLSVLTA
ENAMLNSKLE NEKQSKERLE AEVESYHSRL AAAIHDRDQS ETSKRELELA FQRARDECSR
LQDKMNFDVS NLKDNNEILS QQLFKTESKL NSLEIEFHHT RDALREKTLG LERVQKDLSQ
TQCQMKEMEQ KYQNEQVKVN KYIGKQESVE ERLSQLQSEN MLLRQQLDDA HNKADNKEKT
VINIQDQFHA IVQKLQAESE KQSLLLEERN KELISECNHL KERQYQYENE KAEREVVVRQ
LQQELADTLK KQSMSEASLE VTSRYRINLE DETQDLKKKL GQIRNQLQEA QDRHTEAVRC
AEKMQDHKQK LEKDNAKLKV TVKKQMDKIE ELQKNLLNAN LSEDEKEQLK KLMELKQSLE
CNLDQEMKKN VELEREITGF KNLLKMTRKK LNEYENGEFS FHGDLKTSQF EMDIQINKLK
HKIDDLTAEL ETAGSKCLHL DTKNQILQEE LLSMKTVQKK CEKLQKNKKK LEQEVINLRS
HIERNMVELG QVKQYKQEIE ERARQEIAEK LKEVNLFLQA QAASQENLEQ FRENNFASMK
SQMELRIKDL ESELSKIKTS QEDFNKTELE KYKQLYLEEL KVRKSLSSKL TKTNERLAEV
NTKLLVEKQQ SRSLFTTLTT RPVMEPPCVG NLNNSLDLNR KLIPRENLVI STSNPRASNN
SMENYLSKMQ QELEKNITRE LKEAAAELES GSIASPLGST DESNLNQDLV WKASREYVQV
LKKNYMI*

mutated AA sequence

MNHMFHIKRH SISAGTDAYK KTKPIQNLFQ KPLYDHCSAN NYKSMEPELE NVRSSPPRGD
RTSKVSLKEE LQQDMQRFKN EIGMLKVEFQ ALEKEKVQLQ KEVEEERKKH RNNEMEVSAN
IHDGATDDAE DDDDDDGLIQ KRKSGETDHQ QFPRKENKEY ASSGPALQMK EVKSTEKEKR
TSKESVNSPV FGKASLLTGG LLQVDDDSSL SEIDEDEGRP TKKTSNEKNK VKNQIQSMDD
VDDLTQSSET ASEDCELPHS SYKNFMLLIE QLGMECKDSV SLLKIQDAAL SCERLLELKK
NHCELLTVKI KKMEDKVNVL QRELSETKEI KSQLEHQKVE WERELCSLRF SLNQEEEKRR
NADTLYEKIR EQLRRKEEQY RKEVEVKQQL ELSLQTLEME LRTVKSNLNQ VVQERNDAQR
QLSREQNARM LQDGILTNHL SKQKEIEMAQ KKMNSENSHS HEEEKDLSHK NSMLQEEIAM
LRLEIDTIKN QNQEKEKKCF EDLKIVKEKN EDLQKTIKQN EETLTQTISQ YNGRLSVLTA
ENAMLNSKLE NEKQSKERLE AEVESYHSRL AAAIHDRDQS ETSKRELELA FQRARDECSR
LQDKMNFDVS NLKDNNEILS QQLFKTESKL NSLEIEFHHT RDALREKTLG LERVQKDLSQ
TQCQMKEMEQ KYQNEQVKVN KYIGKQESVE ERLSQLQSEN MLLRQQLDDA HNKADNKEKT
VINIQDQFHA IVQKLQAESE KQSLLLEERN KELISECNHL KERQYQYENE KAEREVVVRQ
LQQELADTLK KQSMSEASLE VTSRYRINLE DETQDLKKKL GQIRNQLQEA QDRHTEAVRC
AEKMQDHKQK LEKDNAKLKV TIKKQMDKIE ELQKNLLNAN LSEDEKEQLK KLMELKQSLE
CNLDQEMKKN VELEREITGF KNLLKMTRKK LNEYENGEFS FHGDLKTSQF EMDIQINKLK
HKIDDLTAEL ETAGSKCLHL DTKNQILQEE LLSMKTVQKK CEKLQKNKKK LEQEVINLRS
HIERNMVELG QVKQYKQEIE ERARQEIAEK LKEVNLFLQA QAASQENLEQ FRENNFASMK
SQMELRIKDL ESELSKIKTS QEDFNKTELE KYKQLYLEEL KVRKSLSSKL TKTNERLAEV
NTKLLVEKQQ SRSLFTTLTT RPVMEPPCVG NLNNSLDLNR KLIPRENLVI STSNPRASNN
SMENYLSKMQ QELEKNITRE LKEAAAELES GSIASPLGST DESNLNQDLV WKASREYVQV
LKKNYMI*

speed

1.31 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems