mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998128 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:74125888A>GN/A show variant in all transcripts IGV

HGNC symbol

DDX43

Ensembl transcript ID

ENST00000370336

Genbank transcript ID

NM_018665

UniProt peptide

Q9NXZ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1886A>G
cDNA.2044A>G
g.21418A>G

AA changes

Q629R Score: 43 explain score(s)

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

629

frameshift

known variant

Reference ID: rs311685

database	homozygous (G/G)	heterozygous	allele carriers
1000G	646	1164	1810
ExAC	16565	-363	16202

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.147	0.021
	0.002	0.014
(flanking)	0.036	0.021

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 gained	21412	0.78	mu: GGCACATCAACGGAA	CACA\|tcaa
Donor gained	21417	0.95	mu: ATCAACGGAAAAGGG	CAAC\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

629

mutated

all conserved

629

Ptroglodytes

all identical

ENSPTRG00000018344

629

Mmulatta

all identical

ENSMMUG00000019599

629

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070291

627

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000022614

665

Dmelanogaster

not conserved

FBgn0037549

671

Celegans

not conserved

Y54G11A.3

480

Xtropicalis

not conserved

ENSXETG00000011767

647

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1947 / 1947

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

649 / 649

position of stopcodon in wt / mu cDNA

2105 / 2105

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

159 / 159

chromosome

strand

last intron/exon boundary

2131

theoretical NMD boundary in CDS

1922

length of CDS

1947

coding sequence (CDS) position

1886

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

2044

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

21418

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

74125888

original gDNA sequence snippet

GAGGTTTAAGGCACATCAACAGAAAAGGGAAATGGAAAGAA

altered gDNA sequence snippet

GAGGTTTAAGGCACATCAACGGAAAAGGGAAATGGAAAGAA

original cDNA sequence snippet

GAGGTTTAAGGCACATCAACAGAAAAGGGAAATGGAAAGAA

altered cDNA sequence snippet

GAGGTTTAAGGCACATCAACGGAAAAGGGAAATGGAAAGAA

wildtype AA sequence

MSHHGGAPKA STWVVASRRS STVSRAPERR PAEELNRTGP EGYSVGRGGR WRGTSRPPEA
VAAGHEELPL CFALKSHFVG AVIGRGGSKI KNIQSTTNTT IQIIQEQPES LVKIFGSKAM
QTKAKAVIDN FVKKLEENYN SECGIDTAFQ PSVGKDGSTD NNVVAGDRPL IDWDQIREEG
LKWQKTKWAD LPPIKKNFYK ESTATSAMSK VEADSWRKEN FNITWDDLKD GEKRPIPNPT
CTFDDAFQCY PEVMENIKKA GFQKPTPIQS QAWPIVLQGI DLIGVAQTGT GKTLCYLMPG
FIHLVLQPSL KGQRNRPGML VLTPTRELAL QVEGECCKYS YKGLRSVCVY GGGNRDEQIE
ELKKGVDIII ATPGRLNDLQ MSNFVNLKNI TYLVLDEADK MLDMGFEPQI MKILLDVRPD
RQTVMTSATW PHSVHRLAQS YLKEPMIVYV GTLDLVAVSS VKQNIIVTTE EEKWSHMQTF
LQSMSSTDKV IVFVSRKAVA DHLSSDLILG NISVESLHGD REQRDREKAL ENFKTGKVRI
LIATDLASRG LDVHDVTHVY NFDFPRNIEE YVHRIGRTGR AGRTGVSITT LTRNDWRVAS
ELINILERAN QSIPEELVSM AERFKAHQQK REMERKMERP QGRPKKFH*

mutated AA sequence

speed

1.00 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