mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999220339274 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM011911)
known disease mutation: rs9145 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:73023915G>CN/A show variant in all transcripts IGV

HGNC symbol

BBS4

Ensembl transcript ID

ENST00000268057

Genbank transcript ID

NM_001252678

UniProt peptide

Q96RK4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.884G>C
cDNA.925G>C
g.45389G>C

AA changes

R295P Score: 103 explain score(s)

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

295

frameshift

known variant

Reference ID: rs121434632
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9145 (pathogenic for Bardet-Biedl syndrome 4|Bardet-Biedl syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.445	1
	4.617	1
(flanking)	0.404	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	45390	wt: 0.9983 / mu: 0.9984 (marginal change - not scored)	wt: AAACGAGCCAACTAC mu: AAACCAGCCAACTAC	ACGA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

295

mutated

not conserved

295

Ptroglodytes

all identical

ENSPTRG00000007255

303

Mmulatta

all identical

ENSMMUG00000013685

295

Fcatus

no alignment

ENSFCAG00000012249

n/a

Mmusculus

all identical

ENSMUSG00000025235

295

Ggallus

all identical

ENSGALG00000001798

273

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063522

295

Dmelanogaster

all conserved

FBgn0033578

308

Celegans

all conserved

F58A4.14

326

Xtropicalis

all identical

ENSXETG00000005200

295

protein features

start (aa)	end (aa)	feature	details
101	337	REGION	Interaction with PCM1.	lost
270	303	REPEAT	TPR 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1560 / 1560

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

520 / 520

position of stopcodon in wt / mu cDNA

1601 / 1601

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

42 / 42

chromosome

strand

last intron/exon boundary

1492

theoretical NMD boundary in CDS

1400

length of CDS

1560

coding sequence (CDS) position

884

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

925

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

45389

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

73023915

original gDNA sequence snippet

GGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCT

altered gDNA sequence snippet

GGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCT

original cDNA sequence snippet

GGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCT

altered cDNA sequence snippet

GGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCT

wildtype AA sequence

MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK*

mutated AA sequence

MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKPANYLA
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK*

speed

0.73 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