IthaID: 3341



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1476770255 HGVS Name: NG_013087.1:g.6875C>T

Context nucleotide sequence:
CCCGCCCCCTCACCTGTGTGCGTGC [A/G] CAGATGCGCCTTCAGGTGGGAGCTC (Strand: +)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLCTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Comments: Found as a homozygous mutation associated with high HbF (72.3%).

External Links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6875
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. Rani N, Jamwal M, Kaur J, Sharma P, Malhotra P, Maitra A, Singh R, Das R, Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis., Blood Cells Mol. Dis. , 2018 PubMed
Created on 2018-07-18 17:03:25, Last reviewed on (Show full history)

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