MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000265239
Querying Taster for transcript #2: ENST00000455191
Querying Taster for transcript #3: ENST00000453254
MT speed 0 s - this script 3.634506 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IQCG	polymorphism_automatic	0.864391179758016	simple_aae		affected		D177H	single base exchange	rs67877771		show file
IQCG	polymorphism_automatic	0.864391179758016	simple_aae		affected		D177H	single base exchange	rs67877771		show file
IQCG	polymorphism_automatic	0.960088744255232	simple_aae		affected		D177H	single base exchange	rs67877771		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.135608820241984 (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)

chr3:197659160C>GN/A show variant in all transcripts IGV

HGNC symbol

IQCG

Ensembl transcript ID

ENST00000265239

Genbank transcript ID

NM_032263

UniProt peptide

Q9H095

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529G>C
cDNA.954G>C
g.27854G>C

AA changes

D177H Score: 81 explain score(s)

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

177

frameshift

known variant

Reference ID: rs67877771

database	homozygous (G/G)	heterozygous	allele carriers
1000G	247	917	1164
ExAC	2649	17898	20547

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.996	0.777
	0.687	0.837
(flanking)	0.132	0.868

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 increased	27858	wt: 0.32 / mu: 0.75	wt: CAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATTAAGG mu: CAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATTAAGG	atgt\|GATT
Acc increased	27851	wt: 0.35 / mu: 0.52	wt: CTCCTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACC mu: CTCCTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACC	ttca\|GCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

all identical

ENSPTRG00000015799

177

Mmulatta

all identical

ENSMMUG00000031190

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035578

165

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068678

107

Dmelanogaster

no alignment

FBgn0039522

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000030781

126

DSTN

protein features

start (aa)	end (aa)	feature	details
177	177	CONFLICT	D -> H (in Ref. 4; AAH04816).	lost
393	422	DOMAIN	IQ.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1332 / 1332

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

444 / 444

position of stopcodon in wt / mu cDNA

1757 / 1757

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

426 / 426

chromosome

strand

-1

last intron/exon boundary

1623

theoretical NMD boundary in CDS

1147

length of CDS

1332

coding sequence (CDS) position

529

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

954

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

27854

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

197659160

original gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

original cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

wildtype AA sequence

MEEDSLEDSN LPPKVWHSEM TVSVTGEPPS TVEEEGIPKE TDIEIIPEIP ETLEPLSLPD
VLRISAVLED TTDQLSILNY IMPVQYEGRQ SICVKSREMN LEGTNLDKLP MASTITKIPS
PLITEEGPNL PEIRHRGRFA VEFNKMQDLV FKKPTRQTIM TTETLKKIQI DRQFFSDVIA
DTIKELQDSA TYNSLLQALS KERENKMHFY DIIAREEKGR KQIISLQKQL INVKKEWQFE
VQSQNEYIAN LKDQLQEMKA KSNLENRYMK TNTELQIAQT QKKCNRTEEL LVEEIEKLRM
KTEEEARTHT EIEMFLRKEQ QKLEERLEFW MEKYDKDTEM KQNELNALKA TKASDLAHLQ
DLAKMIREYE QVIIEDRIEK ERSKKKVKQD LLELKSVIKL QAWWRGTMIR REIGGFKMPK
DKVDSKDSKG KGKGKDKRRG KKK*

mutated AA sequence

MEEDSLEDSN LPPKVWHSEM TVSVTGEPPS TVEEEGIPKE TDIEIIPEIP ETLEPLSLPD
VLRISAVLED TTDQLSILNY IMPVQYEGRQ SICVKSREMN LEGTNLDKLP MASTITKIPS
PLITEEGPNL PEIRHRGRFA VEFNKMQDLV FKKPTRQTIM TTETLKKIQI DRQFFSHVIA
DTIKELQDSA TYNSLLQALS KERENKMHFY DIIAREEKGR KQIISLQKQL INVKKEWQFE
VQSQNEYIAN LKDQLQEMKA KSNLENRYMK TNTELQIAQT QKKCNRTEEL LVEEIEKLRM
KTEEEARTHT EIEMFLRKEQ QKLEERLEFW MEKYDKDTEM KQNELNALKA TKASDLAHLQ
DLAKMIREYE QVIIEDRIEK ERSKKKVKQD LLELKSVIKL QAWWRGTMIR REIGGFKMPK
DKVDSKDSKG KGKGKDKRRG KKK*

speed

1.14 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: 0.135608820241984 (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)

chr3:197659160C>GN/A show variant in all transcripts IGV

HGNC symbol

IQCG

Ensembl transcript ID

ENST00000455191

Genbank transcript ID

NM_001134435

UniProt peptide

Q9H095

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529G>C
cDNA.675G>C
g.27854G>C

AA changes

D177H Score: 81 explain score(s)

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

177

frameshift

known variant

Reference ID: rs67877771

database	homozygous (G/G)	heterozygous	allele carriers
1000G	247	917	1164
ExAC	2649	17898	20547

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.996	0.777
	0.687	0.837
(flanking)	0.132	0.868

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 increased	27858	wt: 0.32 / mu: 0.75	wt: CAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATTAAGG mu: CAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATTAAGG	atgt\|GATT
Acc increased	27851	wt: 0.35 / mu: 0.52	wt: CTCCTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACC mu: CTCCTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACC	ttca\|GCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

all identical

ENSPTRG00000015799

177

Mmulatta

all identical

ENSMMUG00000031190

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035578

165

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068678

107

Dmelanogaster

no alignment

FBgn0039522

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000030781

126

DSTN

protein features

start (aa)	end (aa)	feature	details
177	177	CONFLICT	D -> H (in Ref. 4; AAH04816).	lost
393	422	DOMAIN	IQ.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1332 / 1332

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

444 / 444

position of stopcodon in wt / mu cDNA

1478 / 1478

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

1344

theoretical NMD boundary in CDS

1147

length of CDS

1332

coding sequence (CDS) position

529

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

675

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

27854

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

197659160

original gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

original cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

wildtype AA sequence

mutated AA sequence

MEEDSLEDSN LPPKVWHSEM TVSVTGEPPS TVEEEGIPKE TDIEIIPEIP ETLEPLSLPD
VLRISAVLED TTDQLSILNY IMPVQYEGRQ SICVKSREMN LEGTNLDKLP MASTITKIPS
PLITEEGPNL PEIRHRGRFA VEFNKMQDLV FKKPTRQTIM TTETLKKIQI DRQFFSHVIA
DTIKELQDSA TYNSLLQALS KERENKMHFY DIIAREEKGR KQIISLQKQL INVKKEWQFE
VQSQNEYIAN LKDQLQEMKA KSNLENRYMK TNTELQIAQT QKKCNRTEEL LVEEIEKLRM
KTEEEARTHT EIEMFLRKEQ QKLEERLEFW MEKYDKDTEM KQNELNALKA TKASDLAHLQ
DLAKMIREYE QVIIEDRIEK ERSKKKVKQD LLELKSVIKL QAWWRGTMIR REIGGFKMPK
DKVDSKDSKG KGKGKDKRRG KKK*

speed

0.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0399112557447682 (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)

chr3:197659160C>GN/A show variant in all transcripts IGV

HGNC symbol

IQCG

Ensembl transcript ID

ENST00000453254

Genbank transcript ID

N/A

UniProt peptide

Q9H095

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529G>C
cDNA.712G>C
g.27854G>C

AA changes

D177H Score: 81 explain score(s)

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

177

frameshift

known variant

Reference ID: rs67877771

database	homozygous (G/G)	heterozygous	allele carriers
1000G	247	917	1164
ExAC	2649	17898	20547

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.996	0.777
	0.687	0.837
(flanking)	0.132	0.868

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 increased	27858	wt: 0.32 / mu: 0.75	wt: CAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATTAAGG mu: CAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATTAAGG	atgt\|GATT
Acc increased	27851	wt: 0.35 / mu: 0.52	wt: CTCCTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACC mu: CTCCTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACC	ttca\|GCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

all identical

ENSPTRG00000015799

177

Mmulatta

all identical

ENSMMUG00000031190

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035578

165

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068678

107

Dmelanogaster

all conserved

FBgn0039522

201

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000030781

126

DSTN

protein features

start (aa)	end (aa)	feature	details
177	177	CONFLICT	D -> H (in Ref. 4; AAH04816).	lost
393	422	DOMAIN	IQ.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

933 / 933

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

311 / 311

position of stopcodon in wt / mu cDNA

1116 / 1116

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

184 / 184

chromosome

strand

-1

last intron/exon boundary

910

theoretical NMD boundary in CDS

676

length of CDS

933

coding sequence (CDS) position

529

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

712

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

27854

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

197659160

original gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered gDNA sequence snippet

CTTACAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

original cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCGATGTGATTGCAGATACCATT

altered cDNA sequence snippet

TTGATAGGCAGTTTTTCAGCCATGTGATTGCAGATACCATT

wildtype AA sequence

mutated AA sequence

MEEDSLEDSN LPPKVWHSEM TVSVTGEPPS TVEEEGIPKE TDIEIIPEIP ETLEPLSLPD
VLRISAVLED TTDQLSILNY IMPVQYEGRQ SICVKSREMN LEGTNLDKLP MASTITKIPS
PLITEEGPNL PEIRHRGRFA VEFNKMQDLV FKKPTRQTIM TTETLKKIQI DRQFFSHVIA
DTIKELQDSA TYNSLLQALS KERENKMHFY DIIAREEKGR KQIISLQKQL INVKKEWQFE
VQSQNEYIAN LKDQLQEMKA KSNLENRYMK TNTELQIAQT QKKCNRTEEL LVEEIEVIPG
TLAKNPGDGN *

speed

0.43 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