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: ENST00000408934
MT speed 0 s - this script 2.784808 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PRR21	polymorphism_automatic	5.72986103009043e-13	simple_aae		affected		R95L	single base exchange	rs72993513		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999427 (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)

chr2:240982116C>AN/A show variant in all transcripts IGV

HGNC symbol

PRR21

Ensembl transcript ID

ENST00000408934

Genbank transcript ID

NM_001080835

UniProt peptide

Q8WXC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.284G>T
cDNA.284G>T
g.284G>T

AA changes

R95L Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs72993513

database	homozygous (A/A)	heterozygous	allele carriers
1000G	344	736	1080
ExAC	3	32	35

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.983	0
	0.343	0
(flanking)	-1.908	0

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	284	wt: 0.2443 / mu: 0.2570 (marginal change - not scored)	wt: ATCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCTT mu: ATCCATGCCTCTTCACCCACTGCCCTTCGTCCATGCCTCTT	cacg\|GCCC
Acc marginally increased	281	wt: 0.9607 / mu: 0.9623 (marginal change - not scored)	wt: TTCATCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCT mu: TTCATCCATGCCTCTTCACCCACTGCCCTTCGTCCATGCCT	accc\|ACGG
Acc marginally increased	295	wt: 0.9102 / mu: 0.9753 (marginal change - not scored)	wt: TTCACCCACGGCCCTTCGTCCATGCCTCTTCACCCACGGCC mu: TTCACCCACTGCCCTTCGTCCATGCCTCTTCACCCACGGCC	gtcc\|ATGC
Acc marginally increased	274	wt: 0.6459 / mu: 0.6753 (marginal change - not scored)	wt: ACAGTCCTTCATCCATGCCTCTTCACCCACGGCCCTTCGTC mu: ACAGTCCTTCATCCATGCCTCTTCACCCACTGCCCTTCGTC	cctc\|TTCA
Acc increased	291	wt: 0.78 / mu: 0.95	wt: CCTCTTCACCCACGGCCCTTCGTCCATGCCTCTTCACCCAC mu: CCTCTTCACCCACTGCCCTTCGTCCATGCCTCTTCACCCAC	cttc\|GTCC
Acc gained	288	0.54	mu: ATGCCTCTTCACCCACTGCCCTTCGTCCATGCCTCTTCACC	gccc\|TTCG
Acc gained	292	0.34	mu: CTCTTCACCCACTGCCCTTCGTCCATGCCTCTTCACCCACG	ttcg\|TCCA

distance from splice site

284

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040883

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
38	320	COMPBIAS	Pro-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1170 / 1170

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

390 / 390

position of stopcodon in wt / mu cDNA

1170 / 1170

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

1 / 1

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

1170

coding sequence (CDS) position

284

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

284

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

284

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

240982116

original gDNA sequence snippet

ATCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCTT

altered gDNA sequence snippet

ATCCATGCCTCTTCACCCACTGCCCTTCGTCCATGCCTCTT

original cDNA sequence snippet

ATCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCTT

altered cDNA sequence snippet

ATCCATGCCTCTTCACCCACTGCCCTTCGTCCATGCCTCTT

wildtype AA sequence

MHACSSTALH PRPFIHGFSF TTFLQQLFPH GSSTALHPWP FIHGSSPMAL HPRLFTHGPS
STALHPCPFT HGSSPMSLHP RLFTHSPSSM PLHPRPFVHA SSPTALRPCL FTHGPSSMPL
HPRPFVHASS PTALPPCLFT HGPSSMPLHP RPFLHASSPT ALPPCLFTHG PSSMPLHPRP
FVHASSPTAL RPCLFTHGPS SMPLHPRPFV HASSPTALPP CLFTHGPSSM PLHPRPFVHA
SSPTALRPCL FTHGPSSMPL HPRPFLHASS PTALRPCLFT HGPSSMPLHP RPFVHASSPT
ALRPCLFTHG PSSMPLHPRP FVHASSSTSL HPRPFIHASS SKSLHLRLFS HSSCLVGFSQ
QGNVLLLSAR ATFNTCLLVS NMYFLIISY*

mutated AA sequence

MHACSSTALH PRPFIHGFSF TTFLQQLFPH GSSTALHPWP FIHGSSPMAL HPRLFTHGPS
STALHPCPFT HGSSPMSLHP RLFTHSPSSM PLHPLPFVHA SSPTALRPCL FTHGPSSMPL
HPRPFVHASS PTALPPCLFT HGPSSMPLHP RPFLHASSPT ALPPCLFTHG PSSMPLHPRP
FVHASSPTAL RPCLFTHGPS SMPLHPRPFV HASSPTALPP CLFTHGPSSM PLHPRPFVHA
SSPTALRPCL FTHGPSSMPL HPRPFLHASS PTALRPCLFT HGPSSMPLHP RPFVHASSPT
ALRPCLFTHG PSSMPLHPRP FVHASSSTSL HPRPFIHASS SKSLHLRLFS HSSCLVGFSQ
QGNVLLLSAR ATFNTCLLVS NMYFLIISY*

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