TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17326	52201;52202;52203	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
N2AB	15685	47278;47279;47280	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
N2A	14758	44497;44498;44499	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
N2B	8261	25006;25007;25008	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
Novex-1	8386	25381;25382;25383	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
Novex-2	8453	25582;25583;25584	chr2:178609334;178609333;178609332	chr2:179474061;179474060;179474059
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-112
• Domain position: 76
• Structural Position: 127
• Q(SASA): 0.5817
• 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
N/K	rs1179567067	None	0.565	D	0.591	0.22	0.0401082797425	gnomAD-4.0.0	6.86553E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.00959E-07	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
N/A	0.3387	likely_benign	0.3259	benign	-0.507	Destabilizing	0.633	D	0.67	neutral	None	None	None	None	N
N/C	0.3227	likely_benign	0.3133	benign	0.361	Stabilizing	0.996	D	0.753	deleterious	None	None	None	None	N
N/D	0.1598	likely_benign	0.1568	benign	-0.139	Destabilizing	0.565	D	0.573	neutral	N	0.521322398	None	None	N
N/E	0.4594	ambiguous	0.4731	ambiguous	-0.154	Destabilizing	0.011	N	0.353	neutral	None	None	None	None	N
N/F	0.5677	likely_pathogenic	0.5568	ambiguous	-0.776	Destabilizing	0.961	D	0.769	deleterious	None	None	None	None	N
N/G	0.3822	ambiguous	0.3683	ambiguous	-0.718	Destabilizing	0.633	D	0.567	neutral	None	None	None	None	N
N/H	0.1397	likely_benign	0.14	benign	-0.782	Destabilizing	0.949	D	0.685	prob.neutral	N	0.498823515	None	None	N
N/I	0.3018	likely_benign	0.3023	benign	-0.028	Destabilizing	0.949	D	0.765	deleterious	D	0.528056369	None	None	N
N/K	0.4355	ambiguous	0.4313	ambiguous	0.043	Stabilizing	0.565	D	0.591	neutral	D	0.526842861	None	None	N
N/L	0.265	likely_benign	0.2595	benign	-0.028	Destabilizing	0.923	D	0.747	deleterious	None	None	None	None	N
N/M	0.4004	ambiguous	0.3861	ambiguous	0.521	Stabilizing	0.996	D	0.751	deleterious	None	None	None	None	N
N/P	0.5127	ambiguous	0.5089	ambiguous	-0.16	Destabilizing	0.961	D	0.769	deleterious	None	None	None	None	N
N/Q	0.3993	ambiguous	0.4052	ambiguous	-0.498	Destabilizing	0.237	N	0.316	neutral	None	None	None	None	N
N/R	0.4219	ambiguous	0.4179	ambiguous	0.097	Stabilizing	0.775	D	0.649	neutral	None	None	None	None	N
N/S	0.1054	likely_benign	0.1057	benign	-0.251	Destabilizing	0.034	N	0.376	neutral	N	0.477531548	None	None	N
N/T	0.1602	likely_benign	0.1516	benign	-0.11	Destabilizing	0.565	D	0.59	neutral	N	0.480033136	None	None	N
N/V	0.2937	likely_benign	0.2912	benign	-0.16	Destabilizing	0.923	D	0.753	deleterious	None	None	None	None	N
N/W	0.8227	likely_pathogenic	0.8214	pathogenic	-0.676	Destabilizing	0.996	D	0.717	prob.delet.	None	None	None	None	N
N/Y	0.2015	likely_benign	0.1965	benign	-0.432	Destabilizing	0.983	D	0.765	deleterious	N	0.490554628	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.