mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999999983849 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993648)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:71679936T>CN/A show variant in all transcripts IGV

HGNC symbol

FXN

Ensembl transcript ID

ENST00000498653

Genbank transcript ID

N/A

UniProt peptide

Q16595

alteration type

single base exchange

alteration region

CDS

DNA changes

c.242T>C
cDNA.347T>C
g.29762T>C

AA changes

L81P Score: 98 explain score(s)

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

frameshift

known variant

Reference ID: rs143340609

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	21	21

known disease mutation at this position, please check HGMD for details (HGMD ID CM993648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993648)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.027	0.974
	4.641	0.979
(flanking)	-0.837	0.657

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	29759	0.31	mu: AATCTGGCCATCTTC	TCTG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000000357

156

Fcatus

all identical

ENSFCAG00000008813

154

Mmusculus

all identical

ENSMUSG00000059363

153

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000074356

150

Dmelanogaster

all identical

FBgn0030092

134

Celegans

all identical

F59G1.7

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
78	79	MUTAGEN	LR->GG: Abolishes cleavage to yield frataxin mature form and allows accumulation of frataxin(56-210) and frataxin(78-210).	might get lost (downstream of altered splice site)
79	80	MUTAGEN	RK->GG: Abolishes cleavage to yield frataxin mature form and allows the accumulation of frataxin(56-210).	might get lost (downstream of altered splice site)
92	114	HELIX		might get lost (downstream of altered splice site)
124	128	STRAND		might get lost (downstream of altered splice site)
131	135	STRAND		might get lost (downstream of altered splice site)
138	140	TURN		might get lost (downstream of altered splice site)
142	148	STRAND		might get lost (downstream of altered splice site)
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

408 / 408

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

136 / 136

position of stopcodon in wt / mu cDNA

513 / 513

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

106 / 106

chromosome

strand

last intron/exon boundary

363

theoretical NMD boundary in CDS

207

length of CDS

408

coding sequence (CDS) position

242

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

347

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

29762

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

71679936

original gDNA sequence snippet

GCCAAACAAGCAAATCTGGCTATCTTCTCCATCCAGGTATG

altered gDNA sequence snippet

GCCAAACAAGCAAATCTGGCCATCTTCTCCATCCAGGTATG

original cDNA sequence snippet

GCCAAACAAGCAAATCTGGCTATCTTCTCCATCCAGTGGAC

altered cDNA sequence snippet

GCCAAACAAGCAAATCTGGCCATCTTCTCCATCCAGTGGAC

wildtype AA sequence

MNLRKSGTLG HPGSLDETTY ERLAEETLDS LAEFFEDLAD KPYTFEDYDV SFGSGVLTVK
LGGDLGTYVI NKQTPNKQIW LSSPSSGPKR YDWTGKNWVY SHDGVSLHEL LAAELTKALK
TKLDLSSLAY SGKDA*

mutated AA sequence

MNLRKSGTLG HPGSLDETTY ERLAEETLDS LAEFFEDLAD KPYTFEDYDV SFGSGVLTVK
LGGDLGTYVI NKQTPNKQIW PSSPSSGPKR YDWTGKNWVY SHDGVSLHEL LAAELTKALK
TKLDLSSLAY SGKDA*

speed

1.24 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