mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.99989188845918 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM960297)
known disease mutation: rs18372 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:7357660G>AN/A show variant in all transcripts IGV

HGNC symbol

CHRNB1

Ensembl transcript ID

ENST00000536404

Genbank transcript ID

N/A

UniProt peptide

P11230

alteration type

single base exchange

alteration region

CDS

DNA changes

c.649G>A
cDNA.779G>A
g.9281G>A

AA changes

V217M Score: 21 explain score(s)

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

217

frameshift

known variant

Reference ID: rs137852810
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18372 (pathogenic for Myasthenic syndrome, congenital, 2a, slow-channel|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.033	0.996
	5.152	1
(flanking)	4.255	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 marginally increased	9281	wt: 0.8375 / mu: 0.8615 (marginal change - not scored)	wt: TTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCT mu: TTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCT	actg\|TGTT
Acc marginally increased	9292	wt: 0.8128 / mu: 0.8310 (marginal change - not scored)	wt: ACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACC mu: ACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACC	gctg\|CTGC
Acc increased	9284	wt: 0.78 / mu: 0.92	wt: CCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGAC mu: CCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGAC	gtgt\|TCCT
Acc marginally increased	9271	wt: 0.7938 / mu: 0.8244 (marginal change - not scored)	wt: CTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCT mu: CTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCT	gctg\|ACCC
Donor gained	9277	0.34	mu: ACCCTTACTATGTTC	CCTT\|acta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

217

mutated

all conserved

217

Ptroglodytes

all identical

ENSPTRG00000008689

289

Mmulatta

not conserved

ENSMMUG00000017690

289

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000041189

289

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000004322

282

Drerio

all identical

ENSDARG00000022532

277

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	244	TOPO_DOM	Extracellular (Potential).	lost
245	269	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
277	295	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
311	332	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
333	469	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
390	390	MOD_RES	Phosphotyrosine; by Tyr-kinases (By similarity).	might get lost (downstream of altered splice site)
470	488	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

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

1420 / 1420

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

131 / 131

chromosome

strand

last intron/exon boundary

1280

theoretical NMD boundary in CDS

1099

length of CDS

1290

coding sequence (CDS) position

649

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

779

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

9281

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

7357660

original gDNA sequence snippet

TTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCT

altered gDNA sequence snippet

TTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCT

original cDNA sequence snippet

TTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCT

altered cDNA sequence snippet

TTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCT

wildtype AA sequence

MSTKVYLDLE WTDYRLSWDP AEHDGIDSLR ITAESVWLPD VVLLNNNDGN FDVALDISVV
VSSDGSVRWQ PPGIYRSSCS IQVTYFPFDW QNCTMVFSSY SYDSSEVSLQ TGLGPDGQGH
QEIHIHEGTF IENGQWEIIH KPSRLIQPPG DPRGGREGQR QEVIFYLIIR RKPLFYLVNV
IAPCILITLL AIFVFYLPPD AGEKMGLSIF ALLTLTVFLL LLADKVPETS LSVPIIIKYL
MFTMVLVTFS VILSVVVLNL HHRSPHTHQM PLWVRQIFIH KLPLYLRLKR PKPERDLMPE
PPHCSSPGSG WGRGTDEYFI RKPPSDFLFP KPNRFQPELS APDLRRFIDG PNRAVALLPE
LREVVSSISY IARQLQEQED HDALKEDWQF VAMVVDRLFL WTFIIFTSVG TLVIFLDATY
HLPPPDPFP*

mutated AA sequence

MSTKVYLDLE WTDYRLSWDP AEHDGIDSLR ITAESVWLPD VVLLNNNDGN FDVALDISVV
VSSDGSVRWQ PPGIYRSSCS IQVTYFPFDW QNCTMVFSSY SYDSSEVSLQ TGLGPDGQGH
QEIHIHEGTF IENGQWEIIH KPSRLIQPPG DPRGGREGQR QEVIFYLIIR RKPLFYLVNV
IAPCILITLL AIFVFYLPPD AGEKMGLSIF ALLTLTMFLL LLADKVPETS LSVPIIIKYL
MFTMVLVTFS VILSVVVLNL HHRSPHTHQM PLWVRQIFIH KLPLYLRLKR PKPERDLMPE
PPHCSSPGSG WGRGTDEYFI RKPPSDFLFP KPNRFQPELS APDLRRFIDG PNRAVALLPE
LREVVSSISY IARQLQEQED HDALKEDWQF VAMVVDRLFL WTFIIFTSVG TLVIFLDATY
HLPPPDPFP*

speed

0.71 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