TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31165	93718;93719;93720	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
N2AB	29524	88795;88796;88797	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
N2A	28597	86014;86015;86016	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
N2B	22100	66523;66524;66525	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
Novex-1	22225	66898;66899;66900	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
Novex-2	22292	67099;67100;67101	chr2:178548133;178548132;178548131	chr2:179412860;179412859;179412858
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Fn3-115
• Domain position: 53
• Structural Position: 70
• Q(SASA): 0.8528
• 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
H/Q	rs752443804	0.266	0.001	N	0.092	0.121	0.208816687407	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.87E-06	0
H/Q	rs752443804	0.266	0.001	N	0.092	0.121	0.208816687407	gnomAD-4.0.0	1.59107E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85798E-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
H/A	0.1479	likely_benign	0.1569	benign	-0.439	Destabilizing	0.061	N	0.273	neutral	None	None	None	None	N
H/C	0.1046	likely_benign	0.1123	benign	0.147	Stabilizing	0.983	D	0.383	neutral	None	None	None	None	N
H/D	0.142	likely_benign	0.1458	benign	-0.261	Destabilizing	0.047	N	0.283	neutral	N	0.391341424	None	None	N
H/E	0.1404	likely_benign	0.1358	benign	-0.172	Destabilizing	0.001	N	0.087	neutral	None	None	None	None	N
H/F	0.188	likely_benign	0.2106	benign	0.739	Stabilizing	0.94	D	0.495	neutral	None	None	None	None	N
H/G	0.2086	likely_benign	0.2141	benign	-0.791	Destabilizing	0.228	N	0.326	neutral	None	None	None	None	N
H/I	0.1411	likely_benign	0.1612	benign	0.516	Stabilizing	0.593	D	0.523	neutral	None	None	None	None	N
H/K	0.1259	likely_benign	0.1334	benign	-0.261	Destabilizing	0.001	N	0.172	neutral	None	None	None	None	N
H/L	0.0799	likely_benign	0.0853	benign	0.516	Stabilizing	0.183	N	0.373	neutral	N	0.43524413	None	None	N
H/M	0.228	likely_benign	0.2464	benign	0.24	Stabilizing	0.836	D	0.408	neutral	None	None	None	None	N
H/N	0.0647	likely_benign	0.0757	benign	-0.463	Destabilizing	0.183	N	0.26	neutral	N	0.419989463	None	None	N
H/P	0.1839	likely_benign	0.1986	benign	0.22	Stabilizing	0.523	D	0.444	neutral	N	0.418701383	None	None	N
H/Q	0.0856	likely_benign	0.0877	benign	-0.253	Destabilizing	0.001	N	0.092	neutral	N	0.418528025	None	None	N
H/R	0.0726	likely_benign	0.0753	benign	-0.783	Destabilizing	0.101	N	0.207	neutral	N	0.397998037	None	None	N
H/S	0.1133	likely_benign	0.1222	benign	-0.495	Destabilizing	0.061	N	0.289	neutral	None	None	None	None	N
H/T	0.1069	likely_benign	0.121	benign	-0.29	Destabilizing	0.228	N	0.362	neutral	None	None	None	None	N
H/V	0.1176	likely_benign	0.1271	benign	0.22	Stabilizing	0.228	N	0.396	neutral	None	None	None	None	N
H/W	0.2898	likely_benign	0.2683	benign	1.014	Stabilizing	0.983	D	0.395	neutral	None	None	None	None	N
H/Y	0.0803	likely_benign	0.0874	benign	1.091	Stabilizing	0.523	D	0.324	neutral	N	0.440962168	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.