mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999964426522539 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051045)
known disease mutation: rs4199 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:75272530A>CN/A show variant in all transcripts IGV

HGNC symbol

GDAP1

Ensembl transcript ID

ENST00000220822

Genbank transcript ID

NM_018972

UniProt peptide

Q8TB36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.469A>C
cDNA.549A>C
g.39166A>C

AA changes

T157P Score: 38 explain score(s)

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

157

frameshift

known variant

Reference ID: rs104894079
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4199 (pathogenic for Charcot-Marie-Tooth disease, type 4A|Charcot-Marie-Tooth disease type 2K) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM051045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051045)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.022	0.995
	3.114	1
(flanking)	5.73	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	39172	wt: 0.22 / mu: 0.58	wt: TCCCGGCTTATGCAACTACAAGGATTCGTAGTATGTAAACA mu: TCCCGGCTTATGCACCTACAAGGATTCGTAGTATGTAAACA	acaa\|GGAT
Acc increased	39162	wt: 0.32 / mu: 0.43	wt: GACTCCATGATCCCGGCTTATGCAACTACAAGGATTCGTAG mu: GACTCCATGATCCCGGCTTATGCACCTACAAGGATTCGTAG	ttat\|GCAA
Acc increased	39164	wt: 0.62 / mu: 0.68	wt: CTCCATGATCCCGGCTTATGCAACTACAAGGATTCGTAGTA mu: CTCCATGATCCCGGCTTATGCACCTACAAGGATTCGTAGTA	atgc\|AACT
Donor marginally increased	39167	wt: 0.8925 / mu: 0.9395 (marginal change - not scored)	wt: TGCAACTACAAGGAT mu: TGCACCTACAAGGAT	CAAC\|taca
Donor gained	39165	0.30	mu: TATGCACCTACAAGG	TGCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

157

mutated

not conserved

157

Ptroglodytes

all identical

ENSPTRG00000020354

157

Mmulatta

all identical

ENSMMUG00000022326

157

Fcatus

all identical

ENSFCAG00000014031

157

Mmusculus

all identical

ENSMUSG00000025777

157

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000058601

181

Dmelanogaster

not conserved

FBgn0035587

157

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
153	309	DOMAIN	GST C-terminal.	lost
157	157	MUTAGEN	T->P: No effect on mitochondrial localization.	lost
203	203	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
292	312	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
320	340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
320	358	REGION	Required for mitochondrial localization.	might get lost (downstream of altered splice site)
351	351	CONFLICT	F -> L (in Ref. 1; CAA76892).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1077 / 1077

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

359 / 359

position of stopcodon in wt / mu cDNA

1157 / 1157

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

81 / 81

chromosome

strand

last intron/exon boundary

775

theoretical NMD boundary in CDS

644

length of CDS

1077

coding sequence (CDS) position

469

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

549

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

39166

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

75272530

original gDNA sequence snippet

CCATGATCCCGGCTTATGCAACTACAAGGATTCGTAGTATG

altered gDNA sequence snippet

CCATGATCCCGGCTTATGCACCTACAAGGATTCGTAGTATG

original cDNA sequence snippet

CCATGATCCCGGCTTATGCAACTACAAGGATTCGTAGCCAA

altered cDNA sequence snippet

CCATGATCCCGGCTTATGCACCTACAAGGATTCGTAGCCAA

wildtype AA sequence

MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK CEEHDVSLPL
SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT FLDERTPRLM PDKESMYYPR
VQHYRELLDS LPMDAYTHGC ILHPELTVDS MIPAYATTRI RSQIGNTESE LKKLAEENPD
LQEAYIAKQK RLKSKLLDHD NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC
GESFTLADVS LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL
ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA FRPRPNYF*

mutated AA sequence

MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK CEEHDVSLPL
SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT FLDERTPRLM PDKESMYYPR
VQHYRELLDS LPMDAYTHGC ILHPELTVDS MIPAYAPTRI RSQIGNTESE LKKLAEENPD
LQEAYIAKQK RLKSKLLDHD NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC
GESFTLADVS LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL
ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA FRPRPNYF*

speed

1.29 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