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: ENST00000329214
MT speed 0 s - this script 3.56218 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CCDC137	polymorphism_automatic	6.89455059710298e-08	simple_aae				H127Q	single base exchange	rs7226091		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999931054494 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:79637367C>GN/A show variant in all transcripts IGV

HGNC symbol

CCDC137

Ensembl transcript ID

ENST00000329214

Genbank transcript ID

NM_199287

UniProt peptide

Q6PK04

alteration type

single base exchange

alteration region

CDS

DNA changes

c.381C>G
cDNA.784C>G
g.3974C>G

AA changes

H127Q Score: 24 explain score(s)

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

127

frameshift

known variant

Reference ID: rs7226091

database	homozygous (G/G)	heterozygous	allele carriers
1000G	181	836	1017
ExAC	2694	19071	21765

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.228	0.042
	-0.263	0.048
(flanking)	4.368	0.996

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

113

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

127

mutated

not conserved

127

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000008831

127

Fcatus

not conserved

ENSFCAG00000012925

121

Mmusculus

not conserved

ENSMUSG00000049957

127

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000038374

158

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

870 / 870

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

290 / 290

position of stopcodon in wt / mu cDNA

1273 / 1273

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

404 / 404

chromosome

strand

last intron/exon boundary

1064

theoretical NMD boundary in CDS

610

length of CDS

870

coding sequence (CDS) position

381

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

784

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

3974

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

79637367

original gDNA sequence snippet

TCTGACGGGGCCTATATCCACCGCATGCAGCAAGAGGCCCA

altered gDNA sequence snippet

TCTGACGGGGCCTATATCCAGCGCATGCAGCAAGAGGCCCA

original cDNA sequence snippet

TCTGACGGGGCCTATATCCACCGCATGCAGCAAGAGGCCCA

altered cDNA sequence snippet

TCTGACGGGGCCTATATCCAGCGCATGCAGCAAGAGGCCCA

wildtype AA sequence

MAGAGRGAAV SRVQAGPGSP RRARGRQQVQ PLGKQRPAPW PGLRSKEKKK VNCKPKNQDE
QEIPFRLREI MRSRQEMKNP ISNKKRKKAA QVTFRKTLEK EAKGEEPDIA VPKFKQRKGE
SDGAYIHRMQ QEAQHVLFLS KNQAIRQPEV QAAPKEKSEQ KKAKKAFQKR RLDKVRRKKE
EKAADRLEQE LLRDTVKFGE VVLQPPELTA RPQRSVSKDQ PGRRSQMLRM LLSPGGVSQP
LTASLARQRI VEEERERAVQ AYRALKQRQQ QLHGERPHLT SRKKPEPQL*

mutated AA sequence

MAGAGRGAAV SRVQAGPGSP RRARGRQQVQ PLGKQRPAPW PGLRSKEKKK VNCKPKNQDE
QEIPFRLREI MRSRQEMKNP ISNKKRKKAA QVTFRKTLEK EAKGEEPDIA VPKFKQRKGE
SDGAYIQRMQ QEAQHVLFLS KNQAIRQPEV QAAPKEKSEQ KKAKKAFQKR RLDKVRRKKE
EKAADRLEQE LLRDTVKFGE VVLQPPELTA RPQRSVSKDQ PGRRSQMLRM LLSPGGVSQP
LTASLARQRI VEEERERAVQ AYRALKQRQQ QLHGERPHLT SRKKPEPQL*

speed

1.27 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