mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CI040938)
known disease mutation at this position (HGMD CM045739)
known disease mutation at this position (HGMD CM994109)
known disease mutation: rs3861 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52532505G>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000542656

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1668C>G
g.53126C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121907997
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs3861 (pathogenic for Wilson disease) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.5	0.002
	6.038	1
(flanking)	4.987	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	53130	wt: 0.3649 / mu: 0.4442 (marginal change - not scored)	wt: ACGCCCCCCATGCTC mu: AGGCCCCCCATGCTC	GCCC\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

46 / 46

chromosome

strand

-1

last intron/exon boundary

1493

theoretical NMD boundary in CDS

1397

length of CDS

1587

coding sequence (CDS) position

N/A

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

1668

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

53126

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

52532505

original gDNA sequence snippet

CCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGT

altered gDNA sequence snippet

CCCTGTGACATTCTTCGACAGGCCCCCCATGCTCTTTGTGT

original cDNA sequence snippet

CCCTGTGACATTCTTCGACACGCCCC

altered cDNA sequence snippet

CCCTGTGACATTCTTCGACAGGCCCC

wildtype AA sequence

MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS
LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM
TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS
KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV
LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE
GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV
SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT
PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK
EAAPRWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG*

mutated AA sequence

N/A

speed

1.16 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