TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4925	14998;14999;15000	chr2:178735673;178735672;178735671	chr2:179600400;179600399;179600398
N2AB	4608	14047;14048;14049	chr2:178735673;178735672;178735671	chr2:179600400;179600399;179600398
N2A	3681	11266;11267;11268	chr2:178735673;178735672;178735671	chr2:179600400;179600399;179600398
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: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-32
• Domain position: 38
• Structural Position: 52
• Q(SASA): 0.5289
• 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
G/A	None	None	1.0	N	0.549	0.432	0.219573609325	gnomAD-4.0.0	1.59138E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85811E-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
G/A	0.1673	likely_benign	0.2345	benign	-0.212	Destabilizing	1.0	D	0.549	neutral	N	0.476587905	None	None	N
G/C	0.234	likely_benign	0.2983	benign	-0.921	Destabilizing	1.0	D	0.719	prob.delet.	None	None	None	None	N
G/D	0.1523	likely_benign	0.2114	benign	-0.529	Destabilizing	1.0	D	0.579	neutral	None	None	None	None	N
G/E	0.1624	likely_benign	0.2296	benign	-0.694	Destabilizing	1.0	D	0.637	neutral	N	0.47002272	None	None	N
G/F	0.4636	ambiguous	0.6135	pathogenic	-0.991	Destabilizing	1.0	D	0.706	prob.neutral	None	None	None	None	N
G/H	0.2452	likely_benign	0.329	benign	-0.346	Destabilizing	1.0	D	0.691	prob.neutral	None	None	None	None	N
G/I	0.2929	likely_benign	0.4397	ambiguous	-0.464	Destabilizing	1.0	D	0.711	prob.delet.	None	None	None	None	N
G/K	0.2402	likely_benign	0.3218	benign	-0.637	Destabilizing	1.0	D	0.638	neutral	None	None	None	None	N
G/L	0.3855	ambiguous	0.5282	ambiguous	-0.464	Destabilizing	1.0	D	0.685	prob.neutral	None	None	None	None	N
G/M	0.411	ambiguous	0.5439	ambiguous	-0.541	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	N
G/N	0.1655	likely_benign	0.2133	benign	-0.353	Destabilizing	1.0	D	0.626	neutral	None	None	None	None	N
G/P	0.8892	likely_pathogenic	0.9532	pathogenic	-0.353	Destabilizing	1.0	D	0.657	neutral	None	None	None	None	N
G/Q	0.1938	likely_benign	0.2581	benign	-0.631	Destabilizing	1.0	D	0.691	prob.neutral	None	None	None	None	N
G/R	0.1655	likely_benign	0.212	benign	-0.216	Destabilizing	1.0	D	0.671	neutral	N	0.476941725	None	None	N
G/S	0.0895	likely_benign	0.1072	benign	-0.487	Destabilizing	1.0	D	0.642	neutral	None	None	None	None	N
G/T	0.1863	likely_benign	0.2737	benign	-0.587	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
G/V	0.2579	likely_benign	0.3823	ambiguous	-0.353	Destabilizing	1.0	D	0.669	neutral	D	0.533271643	None	None	N
G/W	0.337	likely_benign	0.4566	ambiguous	-1.102	Destabilizing	1.0	D	0.693	prob.neutral	N	0.515714052	None	None	N
G/Y	0.3318	likely_benign	0.4655	ambiguous	-0.778	Destabilizing	1.0	D	0.707	prob.neutral	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.