Table 8.

Notable TTN Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein Change
(Alias 1)		Comment [Reference]
NM_001267550​.2
NP_001254479​.2 		c.107780_107790
(delinsTGAAAGAAAAA) [FINmaj]		p.Glu35927_Trp35930
(delinsValLysGluLys)		Finnish founder variant [Hackman et al 2002]
c.107837A>Cp.His35946ProItalian founder variant [Pollazzon et al 2010]
c.107840T>Ap.Ile35947AsnFounder variant in Belgians & in Normandy [Van den Bergh et al 2003]
c.107867T>Cp.Leu35956ProFrench founder variant [Hackman et al 2002]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: Udd Distal Myopathy – Tibial Muscular Dystrophy

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