mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999999990684 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM024596)
known disease mutation: rs16143 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:44184766G>AN/A show variant in all transcripts IGV

HGNC symbol

GCK

Ensembl transcript ID

ENST00000395796

Genbank transcript ID

NM_033508

UniProt peptide

P35557

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1364C>T
cDNA.1649C>T
g.53004C>T

AA changes

A455V Score: 64 explain score(s)

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

455

frameshift

known variant

Reference ID: rs104894014
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16143 (pathogenic for Hyperinsulinism due to glucokinase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM024596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024596)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024596)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.104	1
	6.123	1
(flanking)	6.123	1

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
Acc increased	53010	wt: 0.41 / mu: 0.50	wt: GGTCTCGGCGGTGGCCTGTAAGAAGGCCTGTATGCTGGGCC mu: GGTCTCGGCGGTGGTCTGTAAGAAGGCCTGTATGCTGGGCC	gtaa\|GAAG
Donor marginally increased	53008	wt: 0.7452 / mu: 0.7561 (marginal change - not scored)	wt: GCCTGTAAGAAGGCC mu: GTCTGTAAGAAGGCC	CTGT\|aaga

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

all identical

ENSPTRG00000019140

455

Mmulatta

all identical

ENSMMUG00000002427

457

Fcatus

all identical

ENSFCAG00000014361

441

Mmusculus

all identical

ENSMUSG00000041798

456

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068006

467

Dmelanogaster

all identical

FBgn0001186

530

Celegans

all identical

F14B4.2

480

Xtropicalis

all identical

ENSXETG00000019003

456

protein features

start (aa)	end (aa)	feature	details
444	456	HELIX		lost
457	459	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1395 / 1395

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

465 / 465

position of stopcodon in wt / mu cDNA

1680 / 1680

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

286 / 286

chromosome

strand

-1

last intron/exon boundary

1536

theoretical NMD boundary in CDS

1200

length of CDS

1395

coding sequence (CDS) position

1364

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

1649

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

53004

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

44184766

original gDNA sequence snippet

GGCCCTGGTCTCGGCGGTGGCCTGTAAGAAGGCCTGTATGC

altered gDNA sequence snippet

GGCCCTGGTCTCGGCGGTGGTCTGTAAGAAGGCCTGTATGC

original cDNA sequence snippet

GGCCCTGGTCTCGGCGGTGGCCTGTAAGAAGGCCTGTATGC

altered cDNA sequence snippet

GGCCCTGGTCTCGGCGGTGGTCTGTAAGAAGGCCTGTATGC

wildtype AA sequence

MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIS DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*

mutated AA sequence

speed

1.35 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