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: ENST00000343410
MT speed 0 s - this script 2.45949 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HHIPL2	polymorphism_automatic	2.99760216648792e-15	simple_aae				H391D	single base exchange	rs3748666		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999997 (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)

chr1:222713631G>CN/A show variant in all transcripts IGV

HGNC symbol

HHIPL2

Ensembl transcript ID

ENST00000343410

Genbank transcript ID

NM_024746

UniProt peptide

Q6UWX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1171C>G
cDNA.1230C>G
g.7815C>G

AA changes

H391D Score: 81 explain score(s)

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

391

frameshift

known variant

Reference ID: rs3748666

database	homozygous (C/C)	heterozygous	allele carriers
1000G	390	1101	1491
ExAC	7846	17075	24921

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.21	0
	-0.044	0
(flanking)	-2.171	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
Donor marginally increased	7817	wt: 0.9961 / mu: 0.9968 (marginal change - not scored)	wt: TCACATGGCAAGCGG mu: TCAGATGGCAAGCGG	ACAT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

391

mutated

not conserved

391

Ptroglodytes

not conserved

ENSPTRG00000002006

391

Mmulatta

not conserved

ENSMMUG00000007893

384

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000053461

390

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000060008

458

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015039

395

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2175 / 2175

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

725 / 725

position of stopcodon in wt / mu cDNA

2234 / 2234

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

60 / 60

chromosome

strand

-1

last intron/exon boundary

1948

theoretical NMD boundary in CDS

1838

length of CDS

2175

coding sequence (CDS) position

1171

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

1230

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

7815

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

222713631

original gDNA sequence snippet

ATGTGAACAGGGCAGGCTCACATGGCAAGCGGTACCGAGTC

altered gDNA sequence snippet

ATGTGAACAGGGCAGGCTCAGATGGCAAGCGGTACCGAGTC

original cDNA sequence snippet

ATGTGAACAGGGCAGGCTCACATGGCAAGCGGTACCGAGTC

altered cDNA sequence snippet

ATGTGAACAGGGCAGGCTCAGATGGCAAGCGGTACCGAGTC

wildtype AA sequence

MLRTSTPNLC GGLHCRAPWL SSGILCLCLI FLLGQVGLLQ GHPQCLDYGP PFQPPLHLEF
CSDYESFGCC DQHKDRRIAA RYWDIMEYFD LKRHELCGDY IKDILCQECS PYAAHLYDAE
NTQTPLRNLP GLCSDYCSAF HSNCHSAISL LTNDRGLQES HGRDGTRFCH LLDLPDKDYC
FPNVLRNDYL NRHLGMVAQD PQGCLQLCLS EVANGLRNPV SMVHAGDGTH RFFVAEQVGV
VWVYLPDGSR LEQPFLDLKN IVLTTPWIGD ERGFLGLAFH PKFRHNRKFY IYYSCLDKKK
VEKIRISEMK VSRADPNKAD LKSERVILEI EEPASNHNGG QLLFGLDGYM YIFTGDGGQA
GDPFGLFGNA QNKSSLLGKV LRIDVNRAGS HGKRYRVPSD NPFVSEPGAH PAIYAYGIRN
MWRCAVDRGD PITRQGRGRI FCGDVGQNRF EEVDLILKGG NYGWRAKEGF ACYDKKLCHN
ASLDDVLPIY AYGHAVGKSV TGGYVYRGCE SPNLNGLYIF GDFMSGRLMA LQEDRKNKKW
KKQDLCLGST TSCAFPGLIS THSKFIISFA EDEAGELYFL ATSYPSAYAP RGSIYKFVDP
SRRAPPGKCK YKPVPVRTKS KRIPFRPLAK TVLDLLKEQS EKAARKSSSA TLASGPAQGL
SEKGSSKKLA SPTSSKNTLR GPGTKKKARV GPHVRQGKRR KSLKSHSGRM RPSAEQKRAG
RSLP*

mutated AA sequence

MLRTSTPNLC GGLHCRAPWL SSGILCLCLI FLLGQVGLLQ GHPQCLDYGP PFQPPLHLEF
CSDYESFGCC DQHKDRRIAA RYWDIMEYFD LKRHELCGDY IKDILCQECS PYAAHLYDAE
NTQTPLRNLP GLCSDYCSAF HSNCHSAISL LTNDRGLQES HGRDGTRFCH LLDLPDKDYC
FPNVLRNDYL NRHLGMVAQD PQGCLQLCLS EVANGLRNPV SMVHAGDGTH RFFVAEQVGV
VWVYLPDGSR LEQPFLDLKN IVLTTPWIGD ERGFLGLAFH PKFRHNRKFY IYYSCLDKKK
VEKIRISEMK VSRADPNKAD LKSERVILEI EEPASNHNGG QLLFGLDGYM YIFTGDGGQA
GDPFGLFGNA QNKSSLLGKV LRIDVNRAGS DGKRYRVPSD NPFVSEPGAH PAIYAYGIRN
MWRCAVDRGD PITRQGRGRI FCGDVGQNRF EEVDLILKGG NYGWRAKEGF ACYDKKLCHN
ASLDDVLPIY AYGHAVGKSV TGGYVYRGCE SPNLNGLYIF GDFMSGRLMA LQEDRKNKKW
KKQDLCLGST TSCAFPGLIS THSKFIISFA EDEAGELYFL ATSYPSAYAP RGSIYKFVDP
SRRAPPGKCK YKPVPVRTKS KRIPFRPLAK TVLDLLKEQS EKAARKSSSA TLASGPAQGL
SEKGSSKKLA SPTSSKNTLR GPGTKKKARV GPHVRQGKRR KSLKSHSGRM RPSAEQKRAG
RSLP*

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