mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.99999990101758 (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)

chr2:71036482T>CN/A show variant in all transcripts IGV

HGNC symbol

CLEC4F

Ensembl transcript ID

ENST00000426626

Genbank transcript ID

N/A

UniProt peptide

Q8N1N0

alteration type

single base exchange

alteration region

intron

DNA changes

g.11251A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2287101

database	homozygous (C/C)	heterozygous	allele carriers
1000G	135	645	780
ExAC	1059	9434	10493

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.148	0
	-0.058	0
(flanking)	0.005	0

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	11250	0.86	mu: TCAGAAGGTATATTA	AGAA\|ggta
Donor gained	11245	0.95	mu: CCCACTCAGAAGGTA	CACT\|caga

distance from splice site

208

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
61	589	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
476	589	DOMAIN	C-type lectin.	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

25 / 25

chromosome

strand

-1

last intron/exon boundary

1683

theoretical NMD boundary in CDS

1608

length of CDS

1704

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)

11251

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

71036482

original gDNA sequence snippet

GGGATCCTGCCCACTCAGAAAGTATATTATTGTGAATTCTG

altered gDNA sequence snippet

GGGATCCTGCCCACTCAGAAGGTATATTATTGTGAATTCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDGEAVRFCT DNQCVSLHPQ EVDSVAMAPA APKIPRLVQA TPAFMAVTLV FSLVTLFVVV
QQQTRPVPKP VQAVILGDNI TGHLPFEPNN HHHFGREAEM RELIQTFKGH MENSSAWVVE
IQMLKCRVDN VNSQLQVLGD HLGNTNADIQ MVKGVLKDAT TLSLQTQMLR SSLEGTNAEI
QRLKEDLEKA DALTFQTLNF LKSSLENTSI ELHVLSRGLE NANSEIQMLN ASLETANTQA
QLANSSLKNA NAEIYVLRGH LDSVNDLRTQ NQVLRNSLEG ANAEIQGLKE NLQNTNALNS
QTQAFIKSSF DNTSAEIQFL RGHLERAGDE IHVLKRDLKM VTAQTQKANG RLDQTDTQIQ
VFKSEMENVN TLNAQIQVLN GHMKNASREI QTLKQGMKNA SALTSQTQML DSNLQKASAE
IQRLRGDLEN TKALTMEIQQ EQSRLKTLHV VITSQEQLQR TQSQLLQMVL QGWKFNGGSL
YYFSSVKKSW HEAEQFCVSQ GAHLASVASK EEQAFLVEFT SKVYYWIGLT DRGTEGSWRW
TDGTPFNAAQ NKASHSTRKG CCLHLTV*

mutated AA sequence

N/A

speed

0.09 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