mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999886796861 (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)

chr18:613202A>GN/A show variant in all transcripts IGV

HGNC symbol

CLUL1

Ensembl transcript ID

ENST00000581619

Genbank transcript ID

N/A

UniProt peptide

Q15846

alteration type

single base exchange

alteration region

intron

DNA changes

g.16215A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs8086356

database	homozygous (G/G)	heterozygous	allele carriers
1000G	169	973	1142
ExAC	58	434	492

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.995	0.021
	-0.947	0.023
(flanking)	0.187	0.033

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 gained	16209	0.69	mu: TGCACTGCTGCGATC	CACT\|gctg

distance from splice site

4786

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
57	111	COILED	Potential.	might get lost (downstream of altered splice site)
105	105	DISULFID	By similarity.	might get lost (downstream of altered splice site)
116	116	DISULFID	By similarity.	might get lost (downstream of altered splice site)
119	119	DISULFID	By similarity.	might get lost (downstream of altered splice site)
124	124	DISULFID	By similarity.	might get lost (downstream of altered splice site)
131	131	DISULFID	By similarity.	might get lost (downstream of altered splice site)
196	196	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
257	257	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
305	305	DISULFID	By similarity.	might get lost (downstream of altered splice site)
311	311	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
315	315	DISULFID	By similarity.	might get lost (downstream of altered splice site)
322	322	DISULFID	By similarity.	might get lost (downstream of altered splice site)
325	325	DISULFID	By similarity.	might get lost (downstream of altered splice site)
333	333	DISULFID	By similarity.	might get lost (downstream of altered splice site)
351	351	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
412	412	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
431	431	CARBOHYD	N-linked (GlcNAc...) (Potential).	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

848 / 848

chromosome

strand

last intron/exon boundary

2132

theoretical NMD boundary in CDS

1234

length of CDS

1476

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)

16215

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

613202

original gDNA sequence snippet

AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT

altered gDNA sequence snippet

AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MNSMEAAVGT EVPLLDNLQH CNSGNMKPPL LVFIVCLLWL KDSHCAPTWK DKTAISENLK
SFSEVGEIDA DEEVKKALTG IKQMKIMMER KEKEHTNLMS TLKKCREEKQ EALKLLNEVQ
EHLEEEERLC RESLADSWGE CRSCLENNCM RIYTTCQPSW SSVKNKIERF FRKIYQFLFP
FHEDNEKDLP ISEKLIEEDA QLTQMEDVFS QLTVDVNSLF NRSFNVFRQM QQEFDQTFQS
HFISDTDLTE PYFFPAFSKE PMTKADLEQC WDIPNFFQLF CNFSVSIYES VSETITKMLK
AIEDLPKQDK APDHGGLISK MLPGQDRGLC GELDQNLSRC FKFHEKCQKC QAHLSEDCPD
VPALHTELDE AIRLVNVSNQ QYGQILQMTR KHLEDTAYLV EKMRGQFGWV SELANQAPET
EIIFNSIQVV PRIHEGNISK QDETMMTDLS ILPSSNFTLK IPLEESAESS NFIGYVVAKA
LQHFKEHFKT W*

mutated AA sequence

N/A

speed

0.62 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