mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM002057)
known disease mutation: rs6617 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:74531952C>TN/A show variant in all transcripts IGV

HGNC symbol

BBOF1

Ensembl transcript ID

ENST00000394009

Genbank transcript ID

NM_025057

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2263C>T
g.45897C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.289	1
	6.289	1
(flanking)	0.713	1

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

splice sites

splice site change occurs after stopcodon (at aa 716)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	45905	wt: 0.47 / mu: 0.78	wt: AGATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATC mu: AGATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATC	ccat\|ATGG
Acc increased	45907	wt: 0.70 / mu: 0.81	wt: ATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATCTG mu: ATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATCTG	atat\|GGGT

distance from splice site

562

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

124 / 124

chromosome

strand

last intron/exon boundary

1702

theoretical NMD boundary in CDS

1528

length of CDS

1590

coding sequence (CDS) position

N/A

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

2263

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

45897

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

74531952

original gDNA sequence snippet

GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT

altered gDNA sequence snippet

GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT

original cDNA sequence snippet

GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT

altered cDNA sequence snippet

GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT

wildtype AA sequence

MPSKGKDKKK GKSKGKDTKK LIKTDESVVD RAKANASLWE ARLEVTELSR IKYRDTSRIL
AKSNEDLKKK QCKMEKDIMS VLSYLKKQDQ EKDNMIEKLK QQLNETKEKA QEEKDKLEQK
YTRQINELEG QFHQKAKEIG MIHTELKAVR QFQKRKIQVE RELDDLKENL RNTERIHQET
LRRLESRFFE EKHRLEQEAE KKIIMLAERA HHEAIVQLND AGRNVFKEND YLQKALAYHL
KETDALQKNS QKLQESHTLL LHQKEINDLL VKEKIMQLVQ QRSQIQTLQK KVVNLETALS
YMTKEFESEV LKLQQHAMIE NQAGQVEIDK LQHLLQMKDR EMNRVKKLAK NILDERTEVE
RFFLDALHQV KQQILISRKH YKQIAQAAFN LKMRAACTGR TEYPKIRTFD GREHSTNSVN
QDLLEAEKWT HIEGNVDIGD LTWEQKEKVL RLLFAKMNGC PSRKYNQSSR PPVPDYVVSD
SGETKEFGDE SKLQDKIFIT QQIAISDSSG EVVLPTIPKE PQESDTGTF*

mutated AA sequence

N/A

speed

0.81 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