Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26796 | 80611;80612;80613 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| N2AB | 25155 | 75688;75689;75690 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| N2A | 24228 | 72907;72908;72909 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| N2B | 17731 | 53416;53417;53418 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| Novex-1 | 17856 | 53791;53792;53793 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| Novex-2 | 17923 | 53992;53993;53994 | chr2:178565746;178565745;178565744 | chr2:179430473;179430472;179430471 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.757 | N | 0.441 | 0.331 | 0.322510055762 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | 0.324 | N | 0.489 | 0.299 | 0.265929055128 | 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 |
| S/R | rs1651639361  |
None | 0.982 | N | 0.585 | 0.489 | 0.435915822735 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 0 | 0 |
| S/T | rs1296203186 |
None | 0.001 | N | 0.115 | 0.135 | 0.203808441222 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs1296203186 |
None | 0.001 | N | 0.115 | 0.135 | 0.203808441222 | gnomAD-4.0.0 | 1.82703E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.04843E-05 | 0 | 3.40321E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1219 | likely_benign | 0.117 | benign | -0.485 | Destabilizing | 0.142 | N | 0.342 | neutral | None | None | None | None | N |
| S/C | 0.1754 | likely_benign | 0.1785 | benign | -0.889 | Destabilizing | 0.997 | D | 0.555 | neutral | N | 0.502525909 | None | None | N |
| S/D | 0.7147 | likely_pathogenic | 0.6903 | pathogenic | -1.627 | Destabilizing | 0.73 | D | 0.452 | neutral | None | None | None | None | N |
| S/E | 0.7018 | likely_pathogenic | 0.6767 | pathogenic | -1.619 | Destabilizing | 0.023 | N | 0.199 | neutral | None | None | None | None | N |
| S/F | 0.3186 | likely_benign | 0.2687 | benign | -1.116 | Destabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| S/G | 0.1829 | likely_benign | 0.1689 | benign | -0.648 | Destabilizing | 0.757 | D | 0.441 | neutral | N | 0.492370918 | None | None | N |
| S/H | 0.4668 | ambiguous | 0.4545 | ambiguous | -1.227 | Destabilizing | 0.993 | D | 0.573 | neutral | None | None | None | None | N |
| S/I | 0.414 | ambiguous | 0.3837 | ambiguous | -0.16 | Destabilizing | 0.982 | D | 0.621 | neutral | D | 0.525972536 | None | None | N |
| S/K | 0.7915 | likely_pathogenic | 0.7668 | pathogenic | -0.539 | Destabilizing | 0.91 | D | 0.454 | neutral | None | None | None | None | N |
| S/L | 0.2067 | likely_benign | 0.1816 | benign | -0.16 | Destabilizing | 0.953 | D | 0.523 | neutral | None | None | None | None | N |
| S/M | 0.2671 | likely_benign | 0.2506 | benign | 0.096 | Stabilizing | 0.998 | D | 0.568 | neutral | None | None | None | None | N |
| S/N | 0.3309 | likely_benign | 0.3061 | benign | -0.862 | Destabilizing | 0.324 | N | 0.489 | neutral | N | 0.492775766 | None | None | N |
| S/P | 0.988 | likely_pathogenic | 0.9851 | pathogenic | -0.241 | Destabilizing | 0.975 | D | 0.583 | neutral | None | None | None | None | N |
| S/Q | 0.6294 | likely_pathogenic | 0.6194 | pathogenic | -1.179 | Destabilizing | 0.973 | D | 0.534 | neutral | None | None | None | None | N |
| S/R | 0.7365 | likely_pathogenic | 0.7081 | pathogenic | -0.345 | Destabilizing | 0.982 | D | 0.585 | neutral | N | 0.499194547 | None | None | N |
| S/T | 0.0815 | likely_benign | 0.0811 | benign | -0.667 | Destabilizing | 0.001 | N | 0.115 | neutral | N | 0.498322534 | None | None | N |
| S/V | 0.3282 | likely_benign | 0.318 | benign | -0.241 | Destabilizing | 0.883 | D | 0.539 | neutral | None | None | None | None | N |
| S/W | 0.5449 | ambiguous | 0.4978 | ambiguous | -1.211 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| S/Y | 0.3048 | likely_benign | 0.2679 | benign | -0.793 | Destabilizing | 0.998 | D | 0.626 | 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.