TOR1AIP1

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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Changes in this gene were identified in a female, age 17, with limb-girdle muscular dystrophy type 2Y (read full description).

Date of Report

Apr 05, 2018

Full Name

Torsin 1A interacting protein 1

Location

Chromosome 1 (1q25.2)

TOR1AIP1_chr1.179858444.png

Function

The TOR1AIP1 gene codes for a nuclear membrane protein (Kayman-Kurekci et al., 2014).

Database Links

GeneCards: TOR1AIP1

NCBI Gene: 26092

OMIM: 614512

UniProtKB/Swiss-Prot: Q5JTV8

Clinical Significance

Changes in the TOR1AIP1 gene were identified in a UDN participant with muscular dystrophy, limb-girdle, type 2Y.

Gene TOR1AIP1

Inheritance Pattern Autosomal recessive

Position (hg19) chr1:g.179887049C>T & chr1:g.179858444G>A

Transcript NM_015602.3

DNA Change c.1427C>T & c.554-4G>A

Protein Change p.Ala476Val & N/A

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