mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999981872966958 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM900106)
known disease mutation: rs4293 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:155205518C>GN/A show variant in all transcripts IGV

HGNC symbol

GBA

Ensembl transcript ID

ENST00000368373

Genbank transcript ID

NM_000157

UniProt peptide

P04062

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1342G>C
cDNA.1464G>C
g.9136G>C

AA changes

D448H Score: 81 explain score(s)

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

448

frameshift

known variant

Reference ID: rs1064651

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	11	11

known disease mutation: rs4293 (pathogenic for Lewy body dementia|Parkinson disease, late-onset|Gaucher's disease, type 1|Acute neuronopathic Gaucher's disease|Subacute neuronopathic Gaucher's disease|Gaucher disease type 3C|Gaucher disease, perinatal lethal|Gaucher disease|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900106)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900106)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900106)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.44	1
	4.678	1
(flanking)	0.244	0.999

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	9134	wt: 0.2598 / mu: 0.2815 (marginal change - not scored)	wt: CACCAAGGACACGTT mu: CACCAAGCACACGTT	CCAA\|ggac
Donor marginally increased	9133	wt: 0.2131 / mu: 0.2183 (marginal change - not scored)	wt: TCACCAAGGACACGT mu: TCACCAAGCACACGT	ACCA\|agga
Donor increased	9129	wt: 0.64 / mu: 0.75	wt: GACATCACCAAGGAC mu: GACATCACCAAGCAC	CATC\|acca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

448

mutated

not conserved

448

Ptroglodytes

all identical

ENSPTRG00000001416

448

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028048

427

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000010884

434

Drerio

all identical

ENSDARG00000076058

430

Dmelanogaster

all conserved

FBgn0051148

475

Celegans

not conserved

Y4C6B.6

429

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
445	447	HELIX		might get lost (downstream of altered splice site)
449	452	STRAND		might get lost (downstream of altered splice site)
454	463	HELIX		might get lost (downstream of altered splice site)
470	470	CONFLICT	S -> I (in Ref. 15; AA sequence).	might get lost (downstream of altered splice site)
471	479	STRAND		might get lost (downstream of altered splice site)
482	489	STRAND		might get lost (downstream of altered splice site)
495	501	STRAND		might get lost (downstream of altered splice site)
501	501	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
503	505	STRAND		might get lost (downstream of altered splice site)
507	513	STRAND		might get lost (downstream of altered splice site)
514	516	TURN		might get lost (downstream of altered splice site)
517	523	STRAND		might get lost (downstream of altered splice site)
527	533	STRAND		might get lost (downstream of altered splice site)
534	534	CONFLICT	R -> H (in Ref. 1; AAA35873).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1611 / 1611

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

537 / 537

position of stopcodon in wt / mu cDNA

1733 / 1733

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

123 / 123

chromosome

strand

-1

last intron/exon boundary

1628

theoretical NMD boundary in CDS

1455

length of CDS

1611

coding sequence (CDS) position

1342

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

1464

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

9136

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

155205518

original gDNA sequence snippet

TCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCC

altered gDNA sequence snippet

TCATTGTAGACATCACCAAGCACACGTTTTACAAACAGCCC

original cDNA sequence snippet

TCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCC

altered cDNA sequence snippet

TCATTGTAGACATCACCAAGCACACGTTTTACAAACAGCCC

wildtype AA sequence

MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*

mutated AA sequence

MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKHTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*

speed

0.54 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