mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.842484037093036 (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)

chr11:5373114G>AN/A show variant in all transcripts IGV

HGNC symbol

HBG2

Ensembl transcript ID

ENST00000380252

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.293906C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs5006888

database	homozygous (A/A)	heterozygous	allele carriers
1000G	942	1153	2095
ExAC	22245	-11723	10522

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.574	0.373
	0.136	0.411
(flanking)	0.853	0.761

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

97370

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

194 / 194

chromosome

strand

-1

last intron/exon boundary

479

theoretical NMD boundary in CDS

235

length of CDS

414

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)

293906

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

5373114

original gDNA sequence snippet

TAGAGGTATATCTTAAGGGGCTGCGGATGGTAATGAAACAG

altered gDNA sequence snippet

TAGAGGTATATCTTAAGGGGTTGCGGATGGTAATGAAACAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVVLGEMKRK VLPLHFLPFM RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK VKAHGKKVLT
SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG KEFTPEVQAS
WQKMVTGVAS ALSSRYH*

mutated AA sequence

N/A

speed

0.95 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