mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999996 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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

ENST00000540035

Genbank transcript ID

N/A

UniProt peptide

Q15846

alteration type

single base exchange

alteration region

CDS

DNA changes

c.64A>G
cDNA.273A>G
g.16215A>G

AA changes

N22D Score: 23 explain score(s)

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

frameshift

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000009820

Mmulatta

no alignment

ENSMMUG00000004045

n/a

Fcatus

no alignment

ENSFCAG00000009228

n/a

Mmusculus

no homologue

Ggallus

no alignment

ENSGALG00000014904

n/a

Trubripes

no alignment

ENSTRUG00000009690

n/a

Drerio

no alignment

ENSDARG00000055595

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1557 / 1557

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

519 / 519

position of stopcodon in wt / mu cDNA

1766 / 1766

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

210 / 210

chromosome

strand

last intron/exon boundary

1763

theoretical NMD boundary in CDS

1503

length of CDS

1557

coding sequence (CDS) position

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

273

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

AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT

altered cDNA sequence snippet

AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT

wildtype AA sequence

MRTWDYRWSL ALVAQTGVHC CNLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF
IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK
EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY
TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT
VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI
PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL
DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL
EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP
SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW*

mutated AA sequence

MRTWDYRWSL ALVAQTGVHC CDLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF
IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK
EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY
TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT
VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI
PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL
DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL
EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP
SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW*

speed

0.91 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