mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.9999999999813 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM980254)
known disease mutation: rs38298 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15685874G>AN/A show variant in all transcripts IGV

HGNC symbol

BTD

Ensembl transcript ID

ENST00000303498

Genbank transcript ID

NM_000060

UniProt peptide

P43251

alteration type

single base exchange

alteration region

CDS

DNA changes

c.511G>A
cDNA.620G>A
g.43027G>A

AA changes

A171T Score: 58 explain score(s)

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

171

frameshift

known variant

Reference ID: rs13073139

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	47	47

known disease mutation: rs38298 (pathogenic for Biotinidase deficiency|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980254)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980254)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980254)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.466	1
	6.313	1
(flanking)	6.313	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
Acc increased	43030	wt: 0.50 / mu: 0.70	wt: GAGATATGTTCTTGGTGGCCAATCTTGGGACAAAGGAGCCT mu: GAGATATGTTCTTGGTGACCAATCTTGGGACAAAGGAGCCT	gcca\|ATCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

171

mutated

not conserved

171

Ptroglodytes

all identical

ENSPTRG00000014668

171

Mmulatta

all identical

ENSMMUG00000020762

Fcatus

all identical

ENSFCAG00000011306

156

Mmusculus

all identical

ENSMUSG00000021900

157

Ggallus

all identical

ENSGALG00000011216

141

Trubripes

all identical

ENSTRUG00000014869

138

Drerio

all identical

ENSDARG00000006926

146

Dmelanogaster

not conserved

FBgn0040069

127

DIP

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

145

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
203	203	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
212	212	ACT_SITE	Potential.	might get lost (downstream of altered splice site)
245	245	ACT_SITE	Nucleophile (By similarity).	might get lost (downstream of altered splice site)
349	349	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
489	489	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

position of stopcodon in wt / mu cDNA

1741 / 1741

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

110 / 110

chromosome

strand

last intron/exon boundary

569

theoretical NMD boundary in CDS

409

length of CDS

1632

coding sequence (CDS) position

511

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

620

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

43027

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

15685874

original gDNA sequence snippet

GGGGAGATATGTTCTTGGTGGCCAATCTTGGGACAAAGGAG

altered gDNA sequence snippet

GGGGAGATATGTTCTTGGTGACCAATCTTGGGACAAAGGAG

original cDNA sequence snippet

GGGGAGATATGTTCTTGGTGGCCAATCTTGGGACAAAGGAG

altered cDNA sequence snippet

GGGGAGATATGTTCTTGGTGACCAATCTTGGGACAAAGGAG

wildtype AA sequence

MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*

mutated AA sequence

MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV TNLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*

speed

0.86 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