TTN

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 the TTN gene were identified in a female, age 15 with features of multiple pterygium syndrome, Escobar type (read full description).

Date of Report

Aug 19, 2021

Full Name

titin

Location

Chromosome 2 (2q31.2)

Function

The TTN gene encodes for titin or connectin protein, which is expressed in the cardiac and skeletal muscles and is involved in muscle assembly, force transmission, and maintenance of resting tension (Itoh-Satoh et al., 2002).

Database Links

GeneCards: TTN

MedlinePlus Genetics: TTN

NCBI Gene: 7273

OMIM: 188840

UniProtKB/Swiss-Prot: Q8WZ42

Clinical Significance

Changes in this gene were identified in a UDN participant.

Gene TTN

Inheritance Pattern Unknown

Position (hg19) chr2:g.179490032del & chr2:g.179597966C>T

Transcript NM_133378.4

DNA Change c.36812del & c.12322G>A

Protein Change p.Asp12271ValfsTer10 & p.Asp4108Asn

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