IthaID: 3216



Names and Sequences

Functionality: Disease modifying mutation
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.

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. 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)

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