TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9099	27520;27521;27522	chr2:178712730;178712729;178712728	chr2:179577457;179577456;179577455
N2AB	8782	26569;26570;26571	chr2:178712730;178712729;178712728	chr2:179577457;179577456;179577455
N2A	7855	23788;23789;23790	chr2:178712730;178712729;178712728	chr2:179577457;179577456;179577455
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAG
• RefSeq wild type template codon: TTC
• Domain: Ig-76
• Domain position: 81
• Structural Position: 165
• Q(SASA): 0.6614
• Predicted PPI site: N

Reported SAVs

SNV	RS	DUET	PolyPhen-2	Condel	Rhapsody	REVEL	MVP	Source	MAF	Disease	Zygosity	Site annotation	mCSM PPI	Predicted PPI site	Comments	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH
K/N	None	None	0.22	D	0.602	0.156	0.144782658237	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-06	0	0

Saturation Mutagenesis

SAV	AlphaMissense (IC)	AlphaMissense Class (IC)	AlphaMissense (N2AB)	AlphaMissense Class (N2AB)	mCSM	mCSM class	PolyPhen-2	PolyPhen-2 Class	Rhapsody	Rhapsody Class	Condel	Condel Score	Site annotation	mCSM PPI	Predicted PPI site
K/A	0.3134	likely_benign	0.3063	benign	-0.252	Destabilizing	0.072	N	0.625	neutral	None	None	None	None	N
K/C	0.7376	likely_pathogenic	0.717	pathogenic	-0.343	Destabilizing	0.968	D	0.722	prob.delet.	None	None	None	None	N
K/D	0.5072	ambiguous	0.5183	ambiguous	0.178	Stabilizing	0.567	D	0.651	neutral	None	None	None	None	N
K/E	0.1269	likely_benign	0.1377	benign	0.205	Stabilizing	0.124	N	0.588	neutral	N	0.495309233	None	None	N
K/F	0.6725	likely_pathogenic	0.6526	pathogenic	-0.36	Destabilizing	0.726	D	0.707	prob.neutral	None	None	None	None	N
K/G	0.4419	ambiguous	0.4251	ambiguous	-0.502	Destabilizing	0.272	N	0.665	neutral	None	None	None	None	N
K/H	0.2827	likely_benign	0.2637	benign	-0.876	Destabilizing	0.909	D	0.668	neutral	None	None	None	None	N
K/I	0.2874	likely_benign	0.2793	benign	0.339	Stabilizing	0.567	D	0.701	prob.neutral	None	None	None	None	N
K/L	0.3261	likely_benign	0.309	benign	0.339	Stabilizing	0.272	N	0.678	prob.neutral	None	None	None	None	N
K/M	0.18	likely_benign	0.1793	benign	0.291	Stabilizing	0.958	D	0.671	neutral	N	0.493346694	None	None	N
K/N	0.3359	likely_benign	0.3413	ambiguous	0.076	Stabilizing	0.22	N	0.602	neutral	D	0.523653414	None	None	N
K/P	0.8617	likely_pathogenic	0.8543	pathogenic	0.172	Stabilizing	0.726	D	0.671	neutral	None	None	None	None	N
K/Q	0.111	likely_benign	0.1091	benign	-0.141	Destabilizing	0.497	N	0.629	neutral	N	0.492733074	None	None	N
K/R	0.0826	likely_benign	0.0783	benign	-0.195	Destabilizing	0.002	N	0.249	neutral	D	0.528963233	None	None	N
K/S	0.3064	likely_benign	0.3049	benign	-0.552	Destabilizing	0.014	N	0.266	neutral	None	None	None	None	N
K/T	0.1376	likely_benign	0.1376	benign	-0.355	Destabilizing	0.004	N	0.359	neutral	N	0.487308612	None	None	N
K/V	0.2644	likely_benign	0.2588	benign	0.172	Stabilizing	0.567	D	0.638	neutral	None	None	None	None	N
K/W	0.7137	likely_pathogenic	0.6638	pathogenic	-0.262	Destabilizing	0.968	D	0.744	deleterious	None	None	None	None	N
K/Y	0.548	ambiguous	0.5183	ambiguous	0.073	Stabilizing	0.726	D	0.713	prob.delet.	None	None	None	None	N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.