Database

Disease	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TTN

Gene name: titin
OMIM ID: 188840
Chromosome location: 2q31.2

Mutations

Disease/Phenotype	Myopathy, early-onset, with fatal cardiomyopathy
Reference transcript	NM_133378.4
DNA Change	c.98963delA
A.A. Change	p.Lys32988AsnfsX6
Exon/Intron	exon 309
Mutation Type	deletion
Reference	Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A.C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007 Apr;61(4):340-51.

Polymorphisms

Disease/Phenotype

Breast cancer, susceptibility to

Reference transcript

NM_001256850.1

DNA Change

c.73751T>C

A.A. Change

p.Ile24584Thr

Exon/Intron

exon 276

Variation Type

substitution

Reference SNP

rs12463674

Cases

226 cases

Controls

200 healthy women

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
AA	131 (57.96%)	139(69.50%)	1
AG	85 (37.61%)	53(26.50%)	1.70 (1.12-2.58)	0.0127
GG	10 (4.42%)	8(4.00%)	1.33 (0.51-3.46)	0.5641

Reference

Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.