mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999853307651 (explain)

Summary

splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:44374154C>TN/A show variant in all transcripts IGV

HGNC symbol

ARL17B

Ensembl transcript ID

ENST00000570618

Genbank transcript ID

N/A

UniProt peptide

Q8IVW1

alteration type

single base exchange

alteration region

intron

DNA changes

g.64977G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.02	0
	0.523	0.001
(flanking)	0.058	0.001

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

splice sites

splice site change occurs after stopcodon (at aa 133)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	64975	wt: 0.68 / mu: 0.90	wt: AGTGATGGTAAACCC mu: AGTGATGATAAACCC	TGAT\|ggta

distance from splice site

2738

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

107 / 107

chromosome

strand

-1

last intron/exon boundary

506

theoretical NMD boundary in CDS

349

length of CDS

378

coding sequence (CDS) position

N/A

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

N/A

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

64977

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

44374154

original gDNA sequence snippet

TCTTGGATTCTGGAGTGATGGTAAACCCCAGATCCAAAGGT

altered gDNA sequence snippet

TCTTGGATTCTGGAGTGATGATAAACCCCAGATCCAAAGGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGNIFEKLFK SLLGKKKMRI LILSLDTAGK TTILYKLKLG ETVPAVPTVG FCVETVEYKN
NTFAVWDVGS HFKIRPLWQH FFQNTKELSA SQFAQFIKKL CGVTGTNDEA SPGSLTSYPS
HLLDR*

mutated AA sequence

N/A

speed

0.71 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