mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999793072876 (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)

chr19:55317669C>GN/A show variant in all transcripts IGV

HGNC symbol

KIR3DL1

Ensembl transcript ID

ENST00000402254

Genbank transcript ID

N/A

UniProt peptide

P43629

alteration type

single base exchange

alteration region

intron

DNA changes

g.81701C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1051456

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1013	651	1664
ExAC	41	70	111

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.648	0
	-0.413	0.002
(flanking)	0.867	0.011

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	81699	wt: 0.9720 / mu: 0.9731 (marginal change - not scored)	wt: GTCAGACCCGAGTGA mu: GTCAGACGCGAGTGA	CAGA\|cccg
Donor increased	81697	wt: 0.49 / mu: 0.87	wt: TGGTCAGACCCGAGT mu: TGGTCAGACGCGAGT	GTCA\|gacc

distance from splice site

11320

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	21	SIGNAL	By similarity.	might get lost (downstream of altered splice site)
22	340	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
30	35	STRAND		might get lost (downstream of altered splice site)
37	40	STRAND		might get lost (downstream of altered splice site)
42	102	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
45	51	STRAND		might get lost (downstream of altered splice site)
49	49	DISULFID	By similarity.	might get lost (downstream of altered splice site)
57	64	STRAND		might get lost (downstream of altered splice site)
66	68	STRAND		might get lost (downstream of altered splice site)
70	73	HELIX		might get lost (downstream of altered splice site)
76	78	STRAND		might get lost (downstream of altered splice site)
80	82	STRAND		might get lost (downstream of altered splice site)
87	89	HELIX		might get lost (downstream of altered splice site)
91	98	STRAND		might get lost (downstream of altered splice site)
92	92	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
95	95	DISULFID	By similarity.	might get lost (downstream of altered splice site)
100	106	STRAND		might get lost (downstream of altered splice site)
113	118	STRAND		might get lost (downstream of altered splice site)
125	130	STRAND		might get lost (downstream of altered splice site)
132	135	STRAND		might get lost (downstream of altered splice site)
137	202	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
140	148	STRAND		might get lost (downstream of altered splice site)
144	144	DISULFID	By similarity.	might get lost (downstream of altered splice site)
151	157	STRAND		might get lost (downstream of altered splice site)
165	168	STRAND		might get lost (downstream of altered splice site)
170	172	STRAND		might get lost (downstream of altered splice site)
175	182	STRAND		might get lost (downstream of altered splice site)
179	179	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
187	189	HELIX		might get lost (downstream of altered splice site)
191	198	STRAND		might get lost (downstream of altered splice site)
195	195	DISULFID	By similarity.	might get lost (downstream of altered splice site)
213	218	STRAND		might get lost (downstream of altered splice site)
225	230	STRAND		might get lost (downstream of altered splice site)
237	300	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
241	248	STRAND		might get lost (downstream of altered splice site)
244	244	DISULFID	By similarity.	might get lost (downstream of altered splice site)
251	257	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
273	273	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
276	281	STRAND		might get lost (downstream of altered splice site)
289	297	STRAND		might get lost (downstream of altered splice site)
293	293	DISULFID	By similarity.	might get lost (downstream of altered splice site)
311	313	STRAND		might get lost (downstream of altered splice site)
341	360	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	444	TOPO_DOM	Cytoplasmic (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

34 / 34

chromosome

strand

last intron/exon boundary

1192

theoretical NMD boundary in CDS

1108

length of CDS

1368

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)

81701

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

55317669

original gDNA sequence snippet

CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT

altered gDNA sequence snippet

CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGICRHLH VLIGTSVVIF LFILLLFFLL
YRWCSNKKNA AVMDQEPAGD RTVNRQDSDE QDPQEVTYAQ LDHCVFIQRK ISRPSQRPKT
PLTDTSVYTE LPNAEPRSKV VSCPRAPQSG LEGVF*

mutated AA sequence

N/A

speed

0.37 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