SPTA1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in this gene was identified in a male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections (read full description).

Date of Report

Jul 18, 2017

Full Name

Spectrin alpha, erythrocytic 1

Location

Chromosome 1 (1q23.1)

Function

The SPTA1 gene codes for spectrin, which is a part of the red blood cell membrane and important in determining its shape (Knowles et al., 1984).

Database Links

GeneCards: SPTA1

NCBI Gene: 6708

OMIM: 182860

UniProtKB/Swiss-Prot: P02549

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene SPTA1

Inheritance Pattern Unknown

Position (hg19) chr1:g.158592867C>T

Transcript NM_003126.2

DNA Change c.6026G>A

Protein Change p.Arg2009His

Of note: Spectrin staining and blood smears were normal. Additionally, the protein coded for by this gene was not found to be defective.

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