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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000263867
Querying Taster for transcript #2: ENST00000409921
Querying Taster for transcript #3: ENST00000409670
Querying Taster for transcript #4: ENST00000409724
Querying Taster for transcript #5: ENST00000542681
MT speed 0 s - this script 4.983545 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CAPG	polymorphism_automatic	3.44162640997236e-06	simple_aae		affected		H335R	single base exchange	rs6886		show file
CAPG	polymorphism_automatic	3.44162640997236e-06	simple_aae		affected		H335R	single base exchange	rs6886		show file
CAPG	polymorphism_automatic	3.44162640997236e-06	simple_aae		affected		H335R	single base exchange	rs6886		show file
CAPG	polymorphism_automatic	2.09746317489934e-05	simple_aae		affected		H320R	single base exchange	rs6886		show file
CAPG	polymorphism_automatic	2.09746317489934e-05	simple_aae		affected		H314R	single base exchange	rs6886		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999655837359 (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)

chr2:85622059T>CN/A show variant in all transcripts IGV

HGNC symbol

CAPG

Ensembl transcript ID

ENST00000263867

Genbank transcript ID

NM_001256139

UniProt peptide

P40121

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1004A>G
cDNA.1254A>G
g.23497A>G

AA changes

H335R Score: 29 explain score(s)

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

335

frameshift

known variant

Reference ID: rs6886

database	homozygous (C/C)	heterozygous	allele carriers
1000G	906	1118	2024
ExAC	21660	-10553	11107

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.049	0.62
	0.924	0.882
(flanking)	2.804	0.997

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 gained	23491	0.39	mu: GCCTCAGGGCCGTGA	CTCA\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

335

mutated

not conserved

335

Ptroglodytes

not conserved

ENSPTRG00000012132

335

Mmulatta

not conserved

ENSMMUG00000002675

335

Fcatus

not conserved

ENSFCAG00000003379

270

Mmusculus

not conserved

ENSMUSG00000056737

336

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000035560

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023211

333

protein features

start (aa)	end (aa)	feature	details
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
338	340	TURN		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1047 / 1047

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

349 / 349

position of stopcodon in wt / mu cDNA

1297 / 1297

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

251 / 251

chromosome

strand

-1

last intron/exon boundary

1232

theoretical NMD boundary in CDS

931

length of CDS

1047

coding sequence (CDS) position

1004

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

1254

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

23497

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

85622059

original gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

original cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

wildtype AA sequence

MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLWIGQQSS RDEQGACAVL AVHLNTLLGE RPVQHREVQG NESDLFMSYF PRGLKYQEGG
VESAFHKTST GAPAAIKKLY QVKGKKNIRA TERALNWDSF NTGDCFILDL GQNIFAWCGG
KSNILERNKA RDLALAIRDS ERQGKAQVEI VTDGEEPAEM IQVLGPKPAL KEGNPEEDLT
ADKANAQAAA LYKVSDATGQ MNLTKVADSS PFALELLISD DCFVLDNGLC GKIYIWKGRK
ANEKERQAAL QVAEGFISRM QYAPNTQVEI LPQGHESPIF KQFFKDWK*

mutated AA sequence

speed

0.95 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: 0.99999655837359 (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)

chr2:85622059T>CN/A show variant in all transcripts IGV

HGNC symbol

CAPG

Ensembl transcript ID

ENST00000409670

Genbank transcript ID

N/A

UniProt peptide

P40121

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1004A>G
cDNA.1075A>G
g.23497A>G

AA changes

H335R Score: 29 explain score(s)

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

335

frameshift

known variant

Reference ID: rs6886

database	homozygous (C/C)	heterozygous	allele carriers
1000G	906	1118	2024
ExAC	21660	-10553	11107

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.049	0.62
	0.924	0.882
(flanking)	2.804	0.997

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 gained	23491	0.39	mu: GCCTCAGGGCCGTGA	CTCA\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

335

mutated

not conserved

335

Ptroglodytes

not conserved

ENSPTRG00000012132

335

Mmulatta

not conserved

ENSMMUG00000002675

335

Fcatus

not conserved

ENSFCAG00000003379

270

Mmusculus

not conserved

ENSMUSG00000056737

336

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000035560

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023211

333

protein features

start (aa)	end (aa)	feature	details
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
338	340	TURN		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1047 / 1047

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

349 / 349

position of stopcodon in wt / mu cDNA

1118 / 1118

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

72 / 72

chromosome

strand

-1

last intron/exon boundary

1053

theoretical NMD boundary in CDS

931

length of CDS

1047

coding sequence (CDS) position

1004

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

1075

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

23497

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

85622059

original gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

original cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

wildtype AA sequence

mutated AA sequence

speed

0.65 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999655837359 (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)

chr2:85622059T>CN/A show variant in all transcripts IGV

HGNC symbol

CAPG

Ensembl transcript ID

ENST00000409724

Genbank transcript ID

N/A

UniProt peptide

P40121

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1004A>G
cDNA.1108A>G
g.23497A>G

AA changes

H335R Score: 29 explain score(s)

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

335

frameshift

known variant

Reference ID: rs6886

database	homozygous (C/C)	heterozygous	allele carriers
1000G	906	1118	2024
ExAC	21660	-10553	11107

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.049	0.62
	0.924	0.882
(flanking)	2.804	0.997

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 gained	23491	0.39	mu: GCCTCAGGGCCGTGA	CTCA\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

335

mutated

not conserved

335

Ptroglodytes

not conserved

ENSPTRG00000012132

335

Mmulatta

not conserved

ENSMMUG00000002675

335

Fcatus

not conserved

ENSFCAG00000003379

270

Mmusculus

not conserved

ENSMUSG00000056737

336

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000035560

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023211

333

protein features

start (aa)	end (aa)	feature	details
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
338	340	TURN		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1047 / 1047

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

349 / 349

position of stopcodon in wt / mu cDNA

1151 / 1151

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

105 / 105

chromosome

strand

-1

last intron/exon boundary

1086

theoretical NMD boundary in CDS

931

length of CDS

1047

coding sequence (CDS) position

1004

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

1108

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

23497

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

85622059

original gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

original cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

wildtype AA sequence

mutated AA sequence

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999979025368251 (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)

chr2:85622059T>CN/A show variant in all transcripts IGV

HGNC symbol

CAPG

Ensembl transcript ID

ENST00000409921

Genbank transcript ID

NM_001256140

UniProt peptide

P40121

alteration type

single base exchange

alteration region

CDS

DNA changes

c.959A>G
cDNA.1026A>G
g.23497A>G

AA changes

H320R Score: 29 explain score(s)

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

320

frameshift

known variant

Reference ID: rs6886

database	homozygous (C/C)	heterozygous	allele carriers
1000G	906	1118	2024
ExAC	21660	-10553	11107

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.049	0.62
	0.924	0.882
(flanking)	2.804	0.997

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 gained	23491	0.39	mu: GCCTCAGGGCCGTGA	CTCA\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

320

mutated

not conserved

320

Ptroglodytes

not conserved

ENSPTRG00000012132

335

Mmulatta

not conserved

ENSMMUG00000002675

335

Fcatus

not conserved

ENSFCAG00000003379

270

Mmusculus

not conserved

ENSMUSG00000056737

336

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000035560

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023211

333

protein features

start (aa)	end (aa)	feature	details
303	320	HELIX		lost
327	332	STRAND		might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
338	340	TURN		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1002 / 1002

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

334 / 334

position of stopcodon in wt / mu cDNA

1069 / 1069

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

68 / 68

chromosome

strand

-1

last intron/exon boundary

1004

theoretical NMD boundary in CDS

886

length of CDS

1002

coding sequence (CDS) position

959

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

1026

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

23497

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

85622059

original gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

original cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

wildtype AA sequence

MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLWIGQQSS RDEQGACAVL AVHLNTLLGE RPVQHREVQG NESDLFMSYF PRGLKYQEGG
VESAFHKTST GAPAAIKKLY QVKGKKNIRA TERALNWDSF NTGDCFILDL GQNIFAWCGG
KSNILERNKA RDLALAIRDS ERQGKAQVLG PKPALKEGNP EEDLTADKAN AQAAALYKVS
DATGQMNLTK VADSSPFALE LLISDDCFVL DNGLCGKIYI WKGRKANEKE RQAALQVAEG
FISRMQYAPN TQVEILPQGH ESPIFKQFFK DWK*

mutated AA sequence

MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLWIGQQSS RDEQGACAVL AVHLNTLLGE RPVQHREVQG NESDLFMSYF PRGLKYQEGG
VESAFHKTST GAPAAIKKLY QVKGKKNIRA TERALNWDSF NTGDCFILDL GQNIFAWCGG
KSNILERNKA RDLALAIRDS ERQGKAQVLG PKPALKEGNP EEDLTADKAN AQAAALYKVS
DATGQMNLTK VADSSPFALE LLISDDCFVL DNGLCGKIYI WKGRKANEKE RQAALQVAEG
FISRMQYAPN TQVEILPQGR ESPIFKQFFK DWK*

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999979025368251 (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)

chr2:85622059T>CN/A show variant in all transcripts IGV

HGNC symbol

CAPG

Ensembl transcript ID

ENST00000542681

Genbank transcript ID

N/A

UniProt peptide

P40121

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941A>G
cDNA.990A>G
g.23497A>G

AA changes

H314R Score: 29 explain score(s)

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

314

frameshift

known variant

Reference ID: rs6886

database	homozygous (C/C)	heterozygous	allele carriers
1000G	906	1118	2024
ExAC	21660	-10553	11107

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.049	0.62
	0.924	0.882
(flanking)	2.804	0.997

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 gained	23491	0.39	mu: GCCTCAGGGCCGTGA	CTCA\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

not conserved

ENSPTRG00000012132

335

Mmulatta

not conserved

ENSMMUG00000002675

335

Fcatus

not conserved

ENSFCAG00000003379

270

Mmusculus

not conserved

ENSMUSG00000056737

336

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000035560

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023211

333

protein features

start (aa)	end (aa)	feature	details
303	320	HELIX		lost
327	332	STRAND		might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
338	340	TURN		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

984 / 984

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

328 / 328

position of stopcodon in wt / mu cDNA

1033 / 1033

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

50 / 50

chromosome

strand

-1

last intron/exon boundary

968

theoretical NMD boundary in CDS

868

length of CDS

984

coding sequence (CDS) position

941

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

990

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

23497

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

85622059

original gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered gDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

original cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC

altered cDNA sequence snippet

GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC

wildtype AA sequence

MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLNTLLGER PVQHREVQGN ESDLFMSYFP RGLKYQEGGV ESAFHKTSTG APAAIKKLYQ
VKGKKNIRAT ERALNWDSFN TGDCFILDLG QNIFAWCGGK SNILERNKAR DLALAIRDSE
RQGKAQVEIV TDGEEPAEMI QVLGPKPALK EGNPEEDLTA DKANAQAAAL YKVSDATGQM
NLTKVADSSP FALELLISDD CFVLDNGLCG KIYIWKGRKA NEKERQAALQ VAEGFISRMQ
YAPNTQVEIL PQGHESPIFK QFFKDWK*

mutated AA sequence

speed

0.98 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems