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: ENST00000322583
MT speed 0 s - this script 2.819801 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PRR18	polymorphism_automatic	0.000300539573804048	simple_aae		affected		C136S	single base exchange	rs7757150		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999699460426196 (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)

chr6:166721224C>GN/A show variant in all transcripts IGV

HGNC symbol

PRR18

Ensembl transcript ID

ENST00000322583

Genbank transcript ID

NM_175922

UniProt peptide

Q8N4B5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.407G>C
cDNA.648G>C
g.713G>C

AA changes

C136S Score: 112 explain score(s)

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

136

frameshift

known variant

Reference ID: rs7757150

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1647	720	2367
ExAC	27279	-21791	5488

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.005	1
	2.219	1
(flanking)	0.234	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 increased	722	wt: 0.24 / mu: 0.55	wt: TGCGCGCTTCTGCCTGAATCTCACCCCCGAGGCCGTCCTGG mu: TGCGCGCTTCTCCCTGAATCTCACCCCCGAGGCCGTCCTGG	atct\|CACC
Acc marginally increased	718	wt: 0.9451 / mu: 0.9901 (marginal change - not scored)	wt: CCGCTGCGCGCTTCTGCCTGAATCTCACCCCCGAGGCCGTC mu: CCGCTGCGCGCTTCTCCCTGAATCTCACCCCCGAGGCCGTC	ctga\|ATCT
Acc gained	717	0.60	mu: TCCGCTGCGCGCTTCTCCCTGAATCTCACCCCCGAGGCCGT	cctg\|AATC
Acc gained	715	0.60	mu: ACTCCGCTGCGCGCTTCTCCCTGAATCTCACCCCCGAGGCC	tccc\|TGAA

distance from splice site

648

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

136

mutated

not conserved

136

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000011700

111

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055945

159

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000093768

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
160	233	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
276	279	COMPBIAS	Poly-Ala.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

888 / 888

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

296 / 296

position of stopcodon in wt / mu cDNA

1129 / 1129

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

242 / 242

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

888

coding sequence (CDS) position

407

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

648

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

713

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

166721224

original gDNA sequence snippet

AGACTCCGCTGCGCGCTTCTGCCTGAATCTCACCCCCGAGG

altered gDNA sequence snippet

AGACTCCGCTGCGCGCTTCTCCCTGAATCTCACCCCCGAGG

original cDNA sequence snippet

AGACTCCGCTGCGCGCTTCTGCCTGAATCTCACCCCCGAGG

altered cDNA sequence snippet

AGACTCCGCTGCGCGCTTCTCCCTGAATCTCACCCCCGAGG

wildtype AA sequence

MPFPPMPPPP APAPGAQAAR QLPRRPCAAG DKKKRPPQRP EGLLSSSWPS ATLKRPPARR
GPGLDRTQPP APPGVSPQAL PSRARAPATC APPRPAGSGH SPARTTYAAT SAGTGTTAAG
TSSGAGPCPD SAARFCLNLT PEAVLVIQKR HLEKQLLARP RRPFPSPSAE PRRLLAPCLP
ARAAGPRRGG PASDPDAPPT AGQGRRAPPP GAQLLHGGLQ VPQLSPRPGA LRPMLKVSLL
NERHRYDDVE YEEEPEAVDE GLVRKCTEWL RGVESAAAAR GRAGALDSRR HLSTL*

mutated AA sequence

MPFPPMPPPP APAPGAQAAR QLPRRPCAAG DKKKRPPQRP EGLLSSSWPS ATLKRPPARR
GPGLDRTQPP APPGVSPQAL PSRARAPATC APPRPAGSGH SPARTTYAAT SAGTGTTAAG
TSSGAGPCPD SAARFSLNLT PEAVLVIQKR HLEKQLLARP RRPFPSPSAE PRRLLAPCLP
ARAAGPRRGG PASDPDAPPT AGQGRRAPPP GAQLLHGGLQ VPQLSPRPGA LRPMLKVSLL
NERHRYDDVE YEEEPEAVDE GLVRKCTEWL RGVESAAAAR GRAGALDSRR HLSTL*

speed

0.76 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