mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.704346108326852 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993650)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:71687590T>AN/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.553T>A
cDNA.574T>A
g.37416T>A

AA changes

S185T Score: 58 explain score(s)

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

185

frameshift

known variant

Reference ID: rs149335881
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.768	1
	4.472	1
(flanking)	0.331	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 marginally increased	37419	wt: 0.2729 / mu: 0.2831 (marginal change - not scored)	wt: CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC mu: CCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAGAGC	tcca\|TGAG
Donor increased	37417	wt: 0.48 / mu: 0.74	wt: TCCCTCCATGAGCTG mu: TCCCACCATGAGCTG	CCTC\|catg
Donor increased	37415	wt: 0.48 / mu: 0.61	wt: TGTCCCTCCATGAGC mu: TGTCCCACCATGAGC	TCCC\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

185

mutated

all conserved

185

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
182	194	HELIX		lost
202	202	CONFLICT	S -> W (in Ref. 1; AAA98508/AAA98510).	might get lost (downstream of altered splice site)
206	208	STRAND		might get lost (downstream of altered splice site)

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

553

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

574

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

37416

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

71687590

original gDNA sequence snippet

CTCCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAG

altered gDNA sequence snippet

CTCCCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAG

original cDNA sequence snippet

CTCCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAG

altered cDNA sequence snippet

CTCCCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAG

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

0.97 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