SPTBN1

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 26, with a history of global developmental delay, moderate intellectual disability, and autism (read full description).

Date of Report

Jul 24, 2019

Full Name

Spectrin beta, non-erythrocytic 1

Location

Chromosome 2 (2p16.2)

Function

The SPTBN1 gene codes for the beta subunit of the spectrin protein, which is important in cellular shape, protection of membranes again stress, positioning of transmembrane proteins, and molecular traffic. Spectrin is made up of four subunits; the beta subunits are responsible for most of the binding activity (Hayes et al., 2000).

Database Links

GeneCards: SPTBN1

NCBI Gene: 6711

OMIM: 182790

UniProtKB/Swiss-Prot: Q01082

Clinical Significance

The following de novo genetic change was identified in a UDN participant:

Gene SPTBN1

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.54844791G>A

Transcript NM_003128.2

DNA Change c.613G>A

Protein Change p.Gly205Ser

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