Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30941 | 93046;93047;93048 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| N2AB | 29300 | 88123;88124;88125 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| N2A | 28373 | 85342;85343;85344 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| N2B | 21876 | 65851;65852;65853 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| Novex-1 | 22001 | 66226;66227;66228 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| Novex-2 | 22068 | 66427;66428;66429 | chr2:178548805;178548804;178548803 | chr2:179413532;179413531;179413530 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs768960050  |
-0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/D | rs768960050 |
-0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs768960050 |
-0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-4.0.0 | 3.72075E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08564E-06 | 0 | 0 |
| A/G | None | None | None | N | 0.197 | 0.076 | 0.104622674875 | gnomAD-4.0.0 | 6.84735E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| A/T | rs777150584 |
-0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| A/T | rs777150584 |
-0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs777150584 |
-0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-4.0.0 | 1.61232E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 1.86472E-05 | 2.19558E-05 | 1.60123E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3485 | ambiguous | 0.3517 | ambiguous | -0.775 | Destabilizing | 0.824 | D | 0.353 | neutral | None | None | None | None | I |
| A/D | 0.2855 | likely_benign | 0.3013 | benign | -0.621 | Destabilizing | 0.317 | N | 0.413 | neutral | N | 0.425074703 | None | None | I |
| A/E | 0.3035 | likely_benign | 0.3275 | benign | -0.771 | Destabilizing | 0.149 | N | 0.328 | neutral | None | None | None | None | I |
| A/F | 0.3706 | ambiguous | 0.3984 | ambiguous | -1.072 | Destabilizing | 0.38 | N | 0.439 | neutral | None | None | None | None | I |
| A/G | 0.1089 | likely_benign | 0.0999 | benign | -0.517 | Destabilizing | None | N | 0.197 | neutral | N | 0.395754661 | None | None | I |
| A/H | 0.4751 | ambiguous | 0.4992 | ambiguous | -0.556 | Destabilizing | 0.935 | D | 0.429 | neutral | None | None | None | None | I |
| A/I | 0.3104 | likely_benign | 0.3634 | ambiguous | -0.434 | Destabilizing | 0.029 | N | 0.311 | neutral | None | None | None | None | I |
| A/K | 0.5375 | ambiguous | 0.5795 | pathogenic | -0.653 | Destabilizing | 0.149 | N | 0.329 | neutral | None | None | None | None | I |
| A/L | 0.1997 | likely_benign | 0.2166 | benign | -0.434 | Destabilizing | 0.081 | N | 0.351 | neutral | None | None | None | None | I |
| A/M | 0.2131 | likely_benign | 0.2272 | benign | -0.305 | Destabilizing | 0.698 | D | 0.344 | neutral | None | None | None | None | I |
| A/N | 0.193 | likely_benign | 0.1985 | benign | -0.328 | Destabilizing | 0.38 | N | 0.415 | neutral | None | None | None | None | I |
| A/P | 0.8279 | likely_pathogenic | 0.8613 | pathogenic | -0.401 | Destabilizing | 0.484 | N | 0.325 | neutral | N | 0.456906655 | None | None | I |
| A/Q | 0.3342 | likely_benign | 0.3456 | ambiguous | -0.653 | Destabilizing | 0.555 | D | 0.331 | neutral | None | None | None | None | I |
| A/R | 0.4889 | ambiguous | 0.5286 | ambiguous | -0.17 | Destabilizing | 0.555 | D | 0.318 | neutral | None | None | None | None | I |
| A/S | 0.0761 | likely_benign | 0.0766 | benign | -0.561 | Destabilizing | 0.005 | N | 0.344 | neutral | N | 0.428731084 | None | None | I |
| A/T | 0.0811 | likely_benign | 0.0872 | benign | -0.634 | Destabilizing | 0.062 | N | 0.367 | neutral | N | 0.459112706 | None | None | I |
| A/V | 0.1535 | likely_benign | 0.1761 | benign | -0.401 | Destabilizing | None | N | 0.329 | neutral | N | 0.481432205 | None | None | I |
| A/W | 0.7991 | likely_pathogenic | 0.8204 | pathogenic | -1.195 | Destabilizing | 0.935 | D | 0.562 | neutral | None | None | None | None | I |
| A/Y | 0.4809 | ambiguous | 0.5024 | ambiguous | -0.834 | Destabilizing | 0.555 | D | 0.441 | neutral | None | None | None | None | I |
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.