mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 7.21666691293583e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr3:88189341T>CN/A show variant in all transcripts IGV

HGNC symbol

CGGBP1

Ensembl transcript ID

ENST00000462901

Genbank transcript ID

N/A

UniProt peptide

Q9UFW8

alteration type

single base exchange

alteration region

intron

DNA changes

g.9695A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7653652
Allele 'C' was neither found in ExAC nor 1000G.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.358	0.951
	1.491	0.966
(flanking)	-0.026	0.964

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

splice sites

splice site change before start ATG (at aa -75) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	9689	wt: 0.76 / mu: 0.99	wt: GAGCCTGAAATATCC mu: GAGCCTGAAATGTCC	GCCT\|gaaa

distance from splice site

779

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
80	84	MOTIF	Nuclear localization signal (Potential).	might get lost (downstream of altered splice site)
164	164	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
165	165	CONFLICT	Q -> R (in Ref. 2; CAB55894).	might get lost (downstream of altered splice site)

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

513 / 513

chromosome

strand

-1

last intron/exon boundary

490

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

504

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)

9695

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

88189341

original gDNA sequence snippet

AACTACACTGAGCCTGAAATATCCTGTGACTTTTTGTGTGC

altered gDNA sequence snippet

AACTACACTGAGCCTGAAATGTCCTGTGACTTTTTGTGTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MERFVVTAPP ARNRSKTALY VTPLDRVTEF GGELHEDGGK LFCTSCNVVL NHVRKSAISD
HLKSKTHTKR KAEFEEQNVR KKQRPLTASL QCNSTAQTEK VSVIQDFVKM CLEANIPLEK
ADHPAVRAFL SRHVKNGGSI PKSDQLRRAY LPDGYENENQ LLNSQDC*

mutated AA sequence

N/A

speed

0.27 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