mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 0.999999999645458 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34588288A>TN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3H

Ensembl transcript ID

ENST00000400684

Genbank transcript ID

N/A

UniProt peptide

P0C7X1

alteration type

single base exchange

alteration region

intron

DNA changes

g.219774T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs370874761
Allele 'T' was neither found in ExAC nor 1000G.

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.282	1
	0.578	1
(flanking)	2.282	1

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 increased	219778	wt: 0.23 / mu: 0.37	wt: ATATGCTGGGAGACT mu: AAATGCTGGGAGACT	ATGC\|tggg

distance from splice site

6320

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	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

579 / 579

chromosome

strand

-1

last intron/exon boundary

1420

theoretical NMD boundary in CDS

791

length of CDS

1410

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)

219774

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

34588288

original gDNA sequence snippet

CGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAA

altered gDNA sequence snippet

CGAAAGAGCAAGTGGGTGGAAATGCTGGGAGACTGGGAGAA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM KLKNPGRYQI MKEKGKRSSE
HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT MGHQDKKDLC
GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI TRIAFKVQQK RLTKTSRCGP
WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP AKPEQGSSAS RPVPASRGGK
TLCKGDRQAP PGPPAWFPRP IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ
GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF*

mutated AA sequence

N/A

speed

0.65 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