mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999822 (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)

chr11:6520164T>AN/A show variant in all transcripts IGV

HGNC symbol

DNHD1

Ensembl transcript ID

ENST00000354685

Genbank transcript ID

NM_173589

UniProt peptide

Q96M86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.719T>A
cDNA.1381T>A
g.1675T>A

AA changes

V240E Score: 121 explain score(s)

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

240

frameshift

known variant

Reference ID: rs2555158

database	homozygous (A/A)	heterozygous	allele carriers
1000G	680	1086	1766
ExAC	16152	463	16615

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.642	0
	-0.486	0
(flanking)	-0.429	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	1670	wt: 0.9729 / mu: 0.9968 (marginal change - not scored)	wt: AATGCAGAGGTGGAG mu: AATGCAGAGGAGGAG	TGCA\|gagg
Donor marginally increased	1667	wt: 0.9880 / mu: 0.9929 (marginal change - not scored)	wt: GACAATGCAGAGGTG mu: GACAATGCAGAGGAG	CAAT\|gcag
Donor gained	1675	0.34	mu: AGAGGAGGAGCCTGT	AGGA\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

240

mutated

not conserved

240

Ptroglodytes

not conserved

ENSPTRG00000003295

240

Mmulatta

no alignment

ENSMMUG00000007736

n/a

Fcatus

no alignment

ENSFCAG00000004640

n/a

Mmusculus

not conserved

ENSMUSG00000030882

284

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
826	858	COILED	Potential.	might get lost (downstream of altered splice site)
886	896	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
936	991	COILED	Potential.	might get lost (downstream of altered splice site)
1312	1312	CONFLICT	V -> P (in Ref. 5; BAB85004).	might get lost (downstream of altered splice site)
1909	1909	CONFLICT	A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845).	might get lost (downstream of altered splice site)
2261	2261	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2266	2266	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2270	2270	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2695	2732	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
3125	3227	COILED	Potential.	might get lost (downstream of altered splice site)
3590	3651	COILED	Potential.	might get lost (downstream of altered splice site)
4431	4460	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

2456 / 2456

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

663 / 663

chromosome

strand

last intron/exon boundary

2310

theoretical NMD boundary in CDS

1597

length of CDS

1794

coding sequence (CDS) position

719

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

1381

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

1675

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

6520164

original gDNA sequence snippet

TGACACTGACAATGCAGAGGTGGAGCCTGTTGGAAGAAAAG

altered gDNA sequence snippet

TGACACTGACAATGCAGAGGAGGAGCCTGTTGGAAGAAAAG

original cDNA sequence snippet

TGACACTGACAATGCAGAGGTGGAGCCTGTTGGAAGAAAAG

altered cDNA sequence snippet

TGACACTGACAATGCAGAGGAGGAGCCTGTTGGAAGAAAAG

wildtype AA sequence

MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVF*

mutated AA sequence

MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEE
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVF*

speed

0.99 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