mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999979978816 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000231229

Genbank transcript ID

NM_024850

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1341C>A
g.50942C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change occurs after stopcodon (at aa 368)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca
Donor marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

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

N/A

position of start ATG in wt / mu cDNA

235 / 235

chromosome

strand

last intron/exon boundary

1227

theoretical NMD boundary in CDS

942

length of CDS

1044

coding sequence (CDS) position

N/A

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

1341

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQCKREREAW AGALFMVPAG TGSEMLPHPA ASLLLVLASR
GPGPKKENPG GTGLEKKART GRIERRPETR SGGDSGSRDG SPEALRF*

mutated AA sequence

N/A

speed

1.25 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