mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.33364631515823e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:44286950G>AN/A show variant in all transcripts IGV

HGNC symbol

PNPLA5

Ensembl transcript ID

ENST00000381198

Genbank transcript ID

N/A

UniProt peptide

Q7Z6Z6

alteration type

single base exchange

alteration region

intron

DNA changes

g.944C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2071883

database	homozygous (A/A)	heterozygous	allele carriers
1000G	196	810	1006
ExAC	1985	13677	15662

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.525	1
	1.108	1
(flanking)	0.49	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 increased	942	wt: 0.78 / mu: 0.88	wt: TGACTTCGCCACCTGCGATGAGCTCATCCAGGTGTGGGGCG mu: TGACTTCGCCACCTGCGATGAGTTCATCCAGGTGTGGGGCG	atga\|GCTC
Acc marginally increased	935	wt: 0.6717 / mu: 0.7310 (marginal change - not scored)	wt: TGGTCACTGACTTCGCCACCTGCGATGAGCTCATCCAGGTG mu: TGGTCACTGACTTCGCCACCTGCGATGAGTTCATCCAGGTG	acct\|GCGA
Donor marginally increased	937	wt: 0.9536 / mu: 0.9710 (marginal change - not scored)	wt: ACCTGCGATGAGCTC mu: ACCTGCGATGAGTTC	CTGC\|gatg
Donor marginally increased	947	wt: 0.9163 / mu: 0.9537 (marginal change - not scored)	wt: AGCTCATCCAGGTGT mu: AGTTCATCCAGGTGT	CTCA\|tcca

distance from splice site

618

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
12	181	DOMAIN	Patatin.	might get lost (downstream of altered splice site)
319	319	CONFLICT	K -> E (in Ref. 1; BAC86866).	might get lost (downstream of altered splice site)

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

134 / 134

chromosome

strand

-1

last intron/exon boundary

991

theoretical NMD boundary in CDS

807

length of CDS

948

coding sequence (CDS) position

N/A

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

N/A

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

944

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

44286950

original gDNA sequence snippet

ACTTCGCCACCTGCGATGAGCTCATCCAGGTGTGGGGCGGG

altered gDNA sequence snippet

ACTTCGCCACCTGCGATGAGTTCATCCAGGTGTGGGGCGGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS GALNAVSIVC
GKSVDCPSTI TVSPFHGTVD ICPQSTSPNL HELNVFNFSF QISTENFFLG LICLIPPSLE
VVADNCRQGY LDALRFLERR GLTKEPVLWT LVSKEPPAPA DGNWDAGCDQ RWKGGLSLNW
KVPHVQVKDV PNFEQLSPEL EAALKKACTR DPSRWARFWH SGPGQVLTYL LLPCTLPFEY
IYFRSRRLVV WLPDVPADLW WMQGLLRNMA LEVFSRTKAQ LLGPISPPAT RVLETSPLQP
QIAPHREELG PTHQA*

mutated AA sequence

N/A

speed

0.75 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