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: ENST00000263915
MT speed 0.37 s - this script 2.470961 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GRB14	polymorphism_automatic	0.016576019451319	simple_aae		affected		F90I	single base exchange	rs61748245		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.983423980548681 (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)

chr2:165476253A>TN/A show variant in all transcripts IGV

HGNC symbol

GRB14

Ensembl transcript ID

ENST00000263915

Genbank transcript ID

NM_004490

UniProt peptide

Q14449

alteration type

single base exchange

alteration region

CDS

DNA changes

c.268T>A
cDNA.807T>A
g.2106T>A

AA changes

F90I Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs61748245

database	homozygous (T/T)	heterozygous	allele carriers
1000G	624	971	1595
ExAC	24088	-15409	8679

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.736	1
	1.781	1
(flanking)	0.259	1

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	2096	wt: 0.2337 / mu: 0.2384 (marginal change - not scored)	wt: AACCCTTTTCCTGAGCTATGCTGTTCTCCATTTACATCTGT mu: AACCCTTTTCCTGAGCTATGCTGTTCTCCAATTACATCTGT	atgc\|TGTT
Acc increased	2105	wt: 0.51 / mu: 0.75	wt: CCTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGC mu: CCTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGC	tcca\|TTTA
Acc marginally increased	2106	wt: 0.8095 / mu: 0.8229 (marginal change - not scored)	wt: CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA mu: CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA	ccat\|TTAC
Donor increased	2105	wt: 0.62 / mu: 0.76	wt: TCTCCATTTACATCT mu: TCTCCAATTACATCT	TCCA\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000012587

Mmulatta

all identical

ENSMMUG00000015292

Fcatus

no alignment

ENSFCAG00000004699

n/a

Mmusculus

not conserved

ENSMUSG00000026888

Ggallus

no alignment

ENSGALG00000020703

n/a

Trubripes

no alignment

ENSTRUG00000000876

n/a

Drerio

not conserved

ENSDARG00000068280

Dmelanogaster

not conserved

FBgn0261811

805

PPPGDSASLM

Celegans

not conserved

F10E9.6

735

Xtropicalis

no alignment

ENSXETG00000008982

n/a

protein features

start (aa)	end (aa)	feature	details
106	192	DOMAIN	Ras-associating.	might get lost (downstream of altered splice site)
140	140	MUTAGEN	K->A: Partial loss of INSR-binding. Loss of inhibition of AKT1 activation. Loss of inhibition of MAPK3 phosphorylation. Loss of NRAS-binding.	might get lost (downstream of altered splice site)
234	342	DOMAIN	PH.	might get lost (downstream of altered splice site)
245	245	MUTAGEN	E->G: 4-fold increase in PI(3,4,5)P3- binding affinity; when associated with S- 246.	might get lost (downstream of altered splice site)
246	246	MUTAGEN	Q->S: 4-fold increase in PI(3,4,5)P3- binding affinity; when associated with G- 245.	might get lost (downstream of altered splice site)
252	252	MUTAGEN	K->A: Partial loss of INSR-binding. Loss of inhibition of AKT1 activation. Loss of inhibition of MAPK3 phosphorylation. Loss of translocation to the plasma membrane upon insulin-stimulation. More than 3- fold decrease in PI(3,4,5)P3-binding affinity.	might get lost (downstream of altered splice site)
299	299	MUTAGEN	G->N: No effect on PI(3,4,5)P3-binding.	might get lost (downstream of altered splice site)
348	348	MUTAGEN	Q->A: Loss of inhibition of AKT1 activation; when associated with A-349. Loss of inhibition of MAPK3 phosphorylation; when associated with A- 349. No effect on INSR-binding; when associated with A-349.	might get lost (downstream of altered splice site)
349	349	MUTAGEN	N->A: Loss of inhibition of AKT1 activation; when associated with A-348. Loss of inhibition of MAPK3 phosphorylation; when associated with A- 348. No effect on INSR-binding; when associated with A-348.	might get lost (downstream of altered splice site)
372	372	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
377	380	STRAND		might get lost (downstream of altered splice site)
382	385	STRAND		might get lost (downstream of altered splice site)
392	407	HELIX		might get lost (downstream of altered splice site)
434	436	HELIX		might get lost (downstream of altered splice site)
439	535	DOMAIN	SH2.	might get lost (downstream of altered splice site)
446	454	HELIX		might get lost (downstream of altered splice site)
455	457	TURN		might get lost (downstream of altered splice site)
462	467	STRAND		might get lost (downstream of altered splice site)
469	472	STRAND		might get lost (downstream of altered splice site)
475	481	STRAND		might get lost (downstream of altered splice site)
484	495	STRAND		might get lost (downstream of altered splice site)
498	504	STRAND		might get lost (downstream of altered splice site)
510	512	STRAND		might get lost (downstream of altered splice site)
513	520	HELIX		might get lost (downstream of altered splice site)
527	529	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1623 / 1623

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

541 / 541

position of stopcodon in wt / mu cDNA

2162 / 2162

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

540 / 540

chromosome

strand

-1

last intron/exon boundary

2016

theoretical NMD boundary in CDS

1426

length of CDS

1623

coding sequence (CDS) position

268

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

807

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

2106

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

165476253

original gDNA sequence snippet

CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA

altered gDNA sequence snippet

CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA

original cDNA sequence snippet

CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA

altered cDNA sequence snippet

CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA

wildtype AA sequence

MTTSLQDGQS AASRAAARDS PLAAQVCGAA QGRGDAHDLA PAPWLHARAL LPLPDGTRGC
AADRRKKKDL DVPEMPSIPN PFPELCCSPF TSVLSADLFP KANSRKKQVI KVYSEDETSR
ALDVPSDITA RDVCQLLILK NHYIDDHSWT LFEHLPHIGV ERTIEDHELV IEVLSNWGIE
EENKLYFRKN YAKYEFFKNP MYFFPEHMVS FATETNGEIS PTQILQMFLS SSTYPEIHGF
LHAKEQGKKS WKKIYFFLRR SGLYFSTKGT SKEPRHLQFF SEFGNSDIYV SLAGKKKHGA
PTNYGFCFKP NKAGGPRDLK MLCAEEEQSR TCWVTAIRLL KYGMQLYQNY MHPYQGRSGC
SSQSISPMRS ISENSLVAMD FSGQKSRVIE NPTEALSVAV EEGLAWRKKG CLRLGTHGSP
TASSQSSATN MAIHRSQPWF HHKISRDEAQ RLIIQQGLVD GVFLVRDSQS NPKTFVLSMS
HGQKIKHFQI IPVEDDGEMF HTLDDGHTRF TDLIQLVEFY QLNKGVLPCK LKHYCARIAL
*

mutated AA sequence

MTTSLQDGQS AASRAAARDS PLAAQVCGAA QGRGDAHDLA PAPWLHARAL LPLPDGTRGC
AADRRKKKDL DVPEMPSIPN PFPELCCSPI TSVLSADLFP KANSRKKQVI KVYSEDETSR
ALDVPSDITA RDVCQLLILK NHYIDDHSWT LFEHLPHIGV ERTIEDHELV IEVLSNWGIE
EENKLYFRKN YAKYEFFKNP MYFFPEHMVS FATETNGEIS PTQILQMFLS SSTYPEIHGF
LHAKEQGKKS WKKIYFFLRR SGLYFSTKGT SKEPRHLQFF SEFGNSDIYV SLAGKKKHGA
PTNYGFCFKP NKAGGPRDLK MLCAEEEQSR TCWVTAIRLL KYGMQLYQNY MHPYQGRSGC
SSQSISPMRS ISENSLVAMD FSGQKSRVIE NPTEALSVAV EEGLAWRKKG CLRLGTHGSP
TASSQSSATN MAIHRSQPWF HHKISRDEAQ RLIIQQGLVD GVFLVRDSQS NPKTFVLSMS
HGQKIKHFQI IPVEDDGEMF HTLDDGHTRF TDLIQLVEFY QLNKGVLPCK LKHYCARIAL
*

speed

0.37 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems