mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999822430992 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:131565554T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D13

Ensembl transcript ID

ENST00000223865

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.16072T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1572912

database	homozygous (C/C)	heterozygous	allele carriers
1000G	824	872	1696
ExAC	8873	15021	23894

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.819	0
	0.439	0
(flanking)	-1.337	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

2584

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

6 / 6

chromosome

strand

last intron/exon boundary

768

theoretical NMD boundary in CDS

712

length of CDS

828

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)

16072

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

131565554

original gDNA sequence snippet

CTCCCCACACAAGAACTCTGTGCCATCATCCCTAAATGAGT

altered gDNA sequence snippet

CTCCCCACACAAGAACTCTGCGCCATCATCCCTAAATGAGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN YLPLERASWT
SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH PLNPNPDSRW NTYFKDNEVL
LQIDKDVRRL CPDISFFQRA TDYPCLLILD PQNEFETLRK RVEQTTLKSQ TVARNRSGVT
NQEQNIKPQF FAFRWLTLLL SQEFLLPDVI RIWDSLFADD NRFDFLLLVC CAMLMLIREQ
LLEGDFTVNM RLLQDYPITD VCQILQKAKE LQDSK*

mutated AA sequence

N/A

speed

0.58 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