mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999938594918153 (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

ENST00000306071

Genbank transcript ID

NM_000747

UniProt peptide

P11230

alteration type

single base exchange

alteration region

CDS

DNA changes

c.865G>A
cDNA.932G>A
g.9281G>A

AA changes

V289M Score: 21 explain score(s)

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

289

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

289

mutated

all conserved

289

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
277	295	TRANSMEM	Helical; (Potential).	lost
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

1506 / 1506

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

502 / 502

position of stopcodon in wt / mu cDNA

1573 / 1573

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

68 / 68

chromosome

strand

last intron/exon boundary

1433

theoretical NMD boundary in CDS

1315

length of CDS

1506

coding sequence (CDS) position

865

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

932

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

MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL
AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND
GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS
LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI
IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL
KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI
DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS
VGTLVIFLDA TYHLPPPDPF P*

mutated AA sequence

MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL
AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND
GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS
LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI
IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTMF LLLLADKVPE
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL
KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI
DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS
VGTLVIFLDA TYHLPPPDPF P*

speed

0.76 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