IthaID: 3216

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs765026103	HGVS Name:	NG_013087.1:g.6606A>G

Context nucleotide sequence:
GAAGAGCTGGAAGTGCCCTTGGTAC [C/T] GAGGCGCCGGGTACATCGCGGGGTA (Strand: +)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPRYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Also known as: CD 211 CAG>CGG [Gln>Arg] , c.632 A>G

Comments: SNP associated with elevated HbF in an Indian family with β-hemoglobinopathy.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	19
Locus:	NG_013087.1
Locus Location:	6606
Size:	1 bp
Located at:	KLF1
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Indian
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Hariharan P, Gorivale M, Colah R, Ghosh K, Nadkarni A, Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?, Ann. Hum. Genet. , 81(3), 125-128, 2017 PubMed

Created on 2017-05-02 10:43:47, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-05-02 10:43:47	The IthaGenes Curation Team	Created

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