mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.99999491198929 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042702)
known disease mutation: rs549677 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:71679907C>GN/A show variant in all transcripts IGV

HGNC symbol

FXN

Ensembl transcript ID

ENST00000377270

Genbank transcript ID

NM_000144

UniProt peptide

Q16595

alteration type

single base exchange

alteration region

CDS

DNA changes

c.438C>G
cDNA.962C>G
g.29733C>G

AA changes

N146K Score: 94 explain score(s)

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

146

frameshift

known variant

Reference ID: rs146818694
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs549677 (pathogenic for Friedreich ataxia 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042702)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042702)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.768	1
	1.989	1
(flanking)	4.768	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
Donor gained	29732	0.79	mu: GATCAAGAAGCAGAC	TCAA\|gaag
Donor gained	29727	0.82	mu: TATGTGATCAAGAAG	TGTG\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

146

mutated

not conserved

146

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000000357

146

Fcatus

all identical

ENSFCAG00000008813

144

Mmusculus

all identical

ENSMUSG00000059363

143

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000074356

140

Dmelanogaster

all identical

FBgn0030092

124

Celegans

all identical

F59G1.7

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
142	148	STRAND		lost
149	152	TURN		might get lost (downstream of altered splice site)
153	157	STRAND		might get lost (downstream of altered splice site)
159	161	STRAND		might get lost (downstream of altered splice site)
164	168	STRAND		might get lost (downstream of altered splice site)
170	175	STRAND		might get lost (downstream of altered splice site)
175	175	CONFLICT	Y -> F (in Ref. 1; AAA98508/AAA98510).	might get lost (downstream of altered splice site)
176	178	TURN		might get lost (downstream of altered splice site)
182	194	HELIX		might get lost (downstream of altered splice site)
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

633 / 633

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

211 / 211

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

525 / 525

chromosome

strand

last intron/exon boundary

1007

theoretical NMD boundary in CDS

432

length of CDS

633

coding sequence (CDS) position

438

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

962

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

29733

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

71679907

original gDNA sequence snippet

CTAGGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCA

altered gDNA sequence snippet

CTAGGAACCTATGTGATCAAGAAGCAGACGCCAAACAAGCA

original cDNA sequence snippet

CTAGGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCA

altered cDNA sequence snippet

CTAGGAACCTATGTGATCAAGAAGCAGACGCCAAACAAGCA

wildtype AA sequence

MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV
SLHELLAAEL TKALKTKLDL SSLAYSGKDA *

mutated AA sequence

MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVIKKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV
SLHELLAAEL TKALKTKLDL SSLAYSGKDA *

speed

1.09 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