mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999997850855149 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:3659993G>TN/A show variant in all transcripts IGV

HGNC symbol

ART5

Ensembl transcript ID

ENST00000397067

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.903C>A
g.3554C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2271586

database	homozygous (T/T)	heterozygous	allele carriers
1000G	298	904	1202
ExAC	3618	19919	23537

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.668	0.027
	0.303	0.025
(flanking)	0.58	0.025

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change occurs after stopcodon (at aa 257)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	3551	wt: 0.33 / mu: 0.39	wt: TCATATGACGAAGAG mu: TCATATGAAGAAGAG	ATAT\|gacg
Donor marginally increased	3554	wt: 0.9912 / mu: 0.9926 (marginal change - not scored)	wt: TATGACGAAGAGGCA mu: TATGAAGAAGAGGCA	TGAC\|gaag
Donor increased	3549	wt: 0.80 / mu: 0.94	wt: CTTCATATGACGAAG mu: CTTCATATGAAGAAG	TCAT\|atga
Donor marginally increased	3555	wt: 0.3438 / mu: 0.3638 (marginal change - not scored)	wt: ATGACGAAGAGGCAC mu: ATGAAGAAGAGGCAC	GACG\|aaga
Donor marginally increased	3559	wt: 0.9650 / mu: 0.9694 (marginal change - not scored)	wt: CGAAGAGGCACCTCC mu: AGAAGAGGCACCTCC	AAGA\|ggca

distance from splice site

157

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

131 / 131

chromosome

strand

-1

last intron/exon boundary

747

theoretical NMD boundary in CDS

566

length of CDS

720

coding sequence (CDS) position

N/A

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

903

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

3554

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

3659993

original gDNA sequence snippet

AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC

altered gDNA sequence snippet

AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC

original cDNA sequence snippet

AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC

altered cDNA sequence snippet

AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC

wildtype AA sequence

MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGEKRRG CVSAPGVQLG SQSEGASSLP PWKTLLLAPG EFQLSGVGP*

mutated AA sequence

N/A

speed

1.06 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