mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.996663284651111 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM080107)
known disease mutation: rs2742 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61727364G>AN/A show variant in all transcripts IGV

HGNC symbol

FTH1

Ensembl transcript ID

ENST00000529631

Genbank transcript ID

N/A

UniProt peptide

P02794

alteration type

single base exchange

alteration region

CDS

DNA changes

c.127C>T
cDNA.333C>T
g.7769C>T

AA changes

P43S Score: 74 explain score(s)

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

frameshift

known variant

Reference ID: rs121918287
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs2742 (pathogenic for Bestrophinopathy, autosomal recessive) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)

known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)
known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.712	1
	5.712	1
(flanking)	4.717	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 marginally increased	7762	wt: 0.9544 / mu: 0.9772 (marginal change - not scored)	wt: CCAACAGGGACACCT mu: CCAACAGGGACATCT	AACA\|ggga
Donor marginally increased	7772	wt: 0.3808 / mu: 0.4015 (marginal change - not scored)	wt: CACCTGGTCACCAGG mu: CATCTGGTCACCAGG	CCTG\|gtca

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

no homologue

Fcatus

no alignment

ENSFCAG00000007382

n/a

Mmusculus

no alignment

ENSMUSG00000024661

n/a

Ggallus

no alignment

ENSGALG00000007220

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000015551

n/a

Dmelanogaster

no homologue

Celegans

no alignment

D1037.3

n/a

Xtropicalis

no alignment

ENSXETG00000006737

n/a

protein features

start (aa)	end (aa)	feature	details
11	160	DOMAIN	Ferritin-like diiron.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

246 / 246

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

82 / 82

position of stopcodon in wt / mu cDNA

452 / 452

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

207 / 207

chromosome

strand

-1

last intron/exon boundary

321

theoretical NMD boundary in CDS

length of CDS

246

coding sequence (CDS) position

127

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

333

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

7769

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

61727364

original gDNA sequence snippet

ATCCACAGCCAACAGGGACACCTGGTCACCAGGGACAGAAG

altered gDNA sequence snippet

ATCCACAGCCAACAGGGACATCTGGTCACCAGGGACAGAAG

original cDNA sequence snippet

TGTCCATGCCAACAGGGACACCTGGTCACCAGGGACAGAAG

altered cDNA sequence snippet

TGTCCATGCCAACAGGGACATCTGGTCACCAGGGACAGAAG

wildtype AA sequence

MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMPT GTPGHQGQKK SHRKIIPGRT
LYVPDDLEES LPLSGPQFPC L*

mutated AA sequence

MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMPT GTSGHQGQKK SHRKIIPGRT
LYVPDDLEES LPLSGPQFPC L*

speed

0.80 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