mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.980732149041387 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003732)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:71687539G>CN/A show variant in all transcripts IGV

HGNC symbol

FXN

Ensembl transcript ID

ENST00000396366

Genbank transcript ID

NM_181425

UniProt peptide

Q16595

alteration type

single base exchange

alteration region

CDS

DNA changes

c.502G>C
cDNA.523G>C
g.37365G>C

AA changes

V168L Score: 32 explain score(s)

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

168

frameshift

known variant

Reference ID: rs143396368

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)

known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.515	1
	5.515	1
(flanking)	-0.557	0.896

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 marginally increased	37356	wt: 0.8894 / mu: 0.9265 (marginal change - not scored)	wt: ATTTGTTTTGTCTTCCAGTGGACCTAAGCGTTATGACTGGA mu: ATTTGTTTTGTCTTCCAGTGGACCTAAGCCTTATGACTGGA	gtgg\|ACCT
Donor marginally increased	37357	wt: 0.9864 / mu: 0.9913 (marginal change - not scored)	wt: AGTGGACCTAAGCGT mu: AGTGGACCTAAGCCT	TGGA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

168

mutated

all conserved

168

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000000357

n/a

Fcatus

no alignment

ENSFCAG00000008813

n/a

Mmusculus

no alignment

ENSMUSG00000059363

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074356

n/a

Dmelanogaster

no alignment

FBgn0030092

n/a

Celegans

no alignment

F59G1.7

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
164	168	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

591 / 591

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

197 / 197

position of stopcodon in wt / mu cDNA

612 / 612

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

22 / 22

chromosome

strand

last intron/exon boundary

512

theoretical NMD boundary in CDS

440

length of CDS

591

coding sequence (CDS) position

502

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

523

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

37365

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

71687539

original gDNA sequence snippet

GTCTTCCAGTGGACCTAAGCGTTATGACTGGACTGGGAAAA

altered gDNA sequence snippet

GTCTTCCAGTGGACCTAAGCCTTATGACTGGACTGGGAAAA

original cDNA sequence snippet

GGTATGTAGTGGACCTAAGCGTTATGACTGGACTGGGAAAA

altered cDNA sequence snippet

GGTATGTAGTGGACCTAAGCCTTATGACTGGACTGGGAAAA

wildtype AA sequence

MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS RYVVDLSVMT GLGKTGCTPT
TACPSMSCWP QSSLKP*

mutated AA sequence

speed

0.55 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