mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 5.74328174980851e-44 (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)

chr11:5510688T>CN/A show variant in all transcripts IGV

HGNC symbol

HBE1

Ensembl transcript ID

ENST00000380237

Genbank transcript ID

NM_005330

UniProt peptide

P02100

alteration type

single base exchange

alteration region

intron

DNA changes

g.16160A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7101919

database	homozygous (C/C)	heterozygous	allele carriers
1000G	101	571	672
ExAC	4797	22089	26886

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.246	0.989
	4.836	0.989
(flanking)	-0.557	0.001

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

splice sites

splice site change before start ATG (at aa -102) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	16157	wt: 0.2085 / mu: 0.2156 (marginal change - not scored)	wt: AAACCAGGATGATGC mu: AAACCAGGGTGATGC	ACCA\|ggat
Donor increased	16159	wt: 0.25 / mu: 0.97	wt: ACCAGGATGATGCCA mu: ACCAGGGTGATGCCA	CAGG\|atga
Donor marginally increased	16153	wt: 0.3230 / mu: 0.3402 (marginal change - not scored)	wt: TAGAAAACCAGGATG mu: TAGAAAACCAGGGTG	GAAA\|acca
Donor marginally increased	16165	wt: 0.7197 / mu: 0.7296 (marginal change - not scored)	wt: ATGATGCCAATGTGG mu: GTGATGCCAATGTGG	GATG\|ccaa
Donor gained	16154	0.82	mu: AGAAAACCAGGGTGA	AAAA\|ccag

distance from splice site

16111

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	1	INIT_MET	Removed.	might get lost (downstream of altered splice site)
6	18	HELIX		might get lost (downstream of altered splice site)
21	23	TURN		might get lost (downstream of altered splice site)
24	35	HELIX		might get lost (downstream of altered splice site)
36	36	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
37	41	HELIX		might get lost (downstream of altered splice site)
44	46	HELIX		might get lost (downstream of altered splice site)
52	57	HELIX		might get lost (downstream of altered splice site)
59	76	HELIX		might get lost (downstream of altered splice site)
64	64	METAL	Iron (heme distal ligand).	might get lost (downstream of altered splice site)
79	81	STRAND		might get lost (downstream of altered splice site)
83	86	TURN		might get lost (downstream of altered splice site)
87	94	HELIX		might get lost (downstream of altered splice site)
93	93	METAL	Iron (heme proximal ligand).	might get lost (downstream of altered splice site)
95	97	TURN		might get lost (downstream of altered splice site)
102	119	HELIX		might get lost (downstream of altered splice site)
120	122	HELIX		might get lost (downstream of altered splice site)
125	142	HELIX		might get lost (downstream of altered splice site)
143	143	CONFLICT	A -> G (in Ref. 5; AA sequence).	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

346 / 346

chromosome

strand

-1

last intron/exon boundary

661

theoretical NMD boundary in CDS

265

length of CDS

444

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)

16160

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

5510688

original gDNA sequence snippet

CAGGGATGTAGAAAACCAGGATGATGCCAATGTGGGAGCCA

altered gDNA sequence snippet

CAGGGATGTAGAAAACCAGGGTGATGCCAATGTGGGAGCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVHFTAEEKA AVTSLWSKMN VEEAGGEALG RLLVVYPWTQ RFFDSFGNLS SPSAILGNPK
VKAHGKKVLT SFGDAIKNMD NLKPAFAKLS ELHCDKLHVD PENFKLLGNV MVIILATHFG
KEFTPEVQAA WQKLVSAVAI ALAHKYH*

mutated AA sequence

N/A

speed

0.47 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