mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999892612615 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920271)
known disease mutation: rs551 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:55217966A>GN/A show variant in all transcripts IGV

HGNC symbol

FECH

Ensembl transcript ID

ENST00000382873

Genbank transcript ID

NM_001012515

UniProt peptide

P22830

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1268T>C
cDNA.1302T>C
g.36039T>C

AA changes

F423S Score: 155 explain score(s)

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

423

frameshift

known variant

Reference ID: rs118204039
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs551 (pathogenic for Protoporphyria, erythropoietic, 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920271)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920271)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920271)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.748	1
	4.759	1
(flanking)	4.759	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

113

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

423

mutated

not conserved

423

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000022568

423

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024588

416

Ggallus

all identical

ENSGALG00000003066

407

Trubripes

no homologue

Drerio

all identical

ENSDARG00000003462

403

Dmelanogaster

all conserved

FBgn0024891

377

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000020888

411

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1290 / 1290

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

430 / 430

position of stopcodon in wt / mu cDNA

1324 / 1324

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

1190

theoretical NMD boundary in CDS

1105

length of CDS

1290

coding sequence (CDS) position

1268

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

1302

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

36039

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

55217966

original gDNA sequence snippet

CTGCAGGGAGACTAAATCCTTCTTCACCAGCCAGCAGCTGT

altered gDNA sequence snippet

CTGCAGGGAGACTAAATCCTCCTTCACCAGCCAGCAGCTGT

original cDNA sequence snippet

CTGCAGGGAGACTAAATCCTTCTTCACCAGCCAGCAGCTGT

altered cDNA sequence snippet

CTGCAGGGAGACTAAATCCTCCTTCACCAGCCAGCAGCTGT

wildtype AA sequence

MRSLGANMAA ALRAAGVLLR DPLASSSWRV CQPWRWKSGA AAAAVTTETA QHAQGAKPQV
QPQKRYESNI RKPKTGILML NMGGPETLGD VHDFLLRLFL DRDLMTLPIQ NKLAPFIAKR
RTPKIQEQYR RIGGGSPIKI WTSKQGEGMV KLLDELSPNT APHKYYIGFR YVHPLTEEAI
EEMERDGLER AIAFTQYPQY SCSTTGSSLN AIYRYYNQVG RKPTMKWSTI DRWPTHHLLI
QCFADHILKE LDHFPLEKRS EVVILFSAHS LPMSVVNRGD PYPQEVSATV QKVMERLEYC
NPYRLVWQSK VGPMPWLGPQ TDESIKGLCE RGRKNILLVP IAFTSDHIET LYELDIEYSQ
VLAKECGVEN IRRAESLNGN PLFSKALADL VHSHIQSNEL CSKQLTLSCP LCVNPVCRET
KSFFTSQQL*

mutated AA sequence

speed

0.58 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