Results

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Querying Taster for transcript #1: ENST00000643122
MT speed 0.02 s - this script 2.417561 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000643122	HBD	Deleterious	121\|79	without_aae		No	Yes			Single base exchange		N/A	Known disease mutation: ClinVar ID 15087 (pathogenic)

Variant:

11:5234514T>C_1_ENST00000643122

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Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 15087 (pathogenic)

Model: without_aae
Tree vote: 121|79 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:5234514T>C (GRCh38)

Gene symbol

HBD

Gene constraints

LOEUF: 1.58, LOF (oe): 0.97, misssense (oe): 1.04, synonymous (oe): 1.19 ? (gnomAD)

Ensembl transcript ID

ENST00000643122.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-28-53A>G
g.9144A>G

AA changes

N/A

Frameshift

Length of protein

N/A

Pathogenic variant (ClinVar)

Delta-plus-thalassemia

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs35518301
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	3	3

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.091	0.507
	0.647	0.384
(flanking)	-1.618	0

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

Strand

-1

Original gDNA sequence snippet

GCAGGGAGGACAGGACCAGCATAAAAGGCAGGGCAGAGTCG

Altered gDNA sequence snippet

GCAGGGAGGACAGGACCAGCGTAAAAGGCAGGGCAGAGTCG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK
VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG
KEFTPQMQAA YQKVVAGVAN ALAHKYH*

Mutated AA sequence

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

Position of start ATG in wt / mu cDNA

237 / 237

Last intron/exon boundary

551

Theoretical NMD boundary in CDS

264

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

9144

Chromosomal position

5234514

Speed

0.02 s