Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4803 | 14632;14633;14634 | chr2:178736039;178736038;178736037 | chr2:179600766;179600765;179600764 |
| N2AB | 4486 | 13681;13682;13683 | chr2:178736039;178736038;178736037 | chr2:179600766;179600765;179600764 |
| N2A | 3559 | 10900;10901;10902 | chr2:178736039;178736038;178736037 | chr2:179600766;179600765;179600764 |
| 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
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/C | None | None | 0.78 | N | 0.378 | 0.254 | 0.277730125212 | gnomAD-4.0.0 | 6.87705E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02757E-07 | 0 | 0 |
| S/F | rs774228049  |
-0.764 | 0.484 | N | 0.454 | 0.263 | 0.377799810692 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| S/F | rs774228049 |
-0.764 | 0.484 | N | 0.454 | 0.263 | 0.377799810692 | gnomAD-4.0.0 | 1.10033E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44441E-05 | 0 | 0 |
| S/Y | None | None | 0.484 | N | 0.456 | 0.233 | 0.379366414296 | gnomAD-4.0.0 | 6.87705E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02757E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1052 | likely_benign | 0.131 | benign | -0.278 | Destabilizing | None | N | 0.078 | neutral | N | 0.455541523 | None | None | N |
| S/C | 0.2087 | likely_benign | 0.2961 | benign | -0.373 | Destabilizing | 0.78 | D | 0.378 | neutral | N | 0.490963413 | None | None | N |
| S/D | 0.445 | ambiguous | 0.5681 | pathogenic | 0.616 | Stabilizing | 0.149 | N | 0.243 | neutral | None | None | None | None | N |
| S/E | 0.6051 | likely_pathogenic | 0.776 | pathogenic | 0.57 | Stabilizing | 0.149 | N | 0.249 | neutral | None | None | None | None | N |
| S/F | 0.342 | ambiguous | 0.5567 | ambiguous | -0.778 | Destabilizing | 0.484 | N | 0.454 | neutral | N | 0.488198969 | None | None | N |
| S/G | 0.1403 | likely_benign | 0.1715 | benign | -0.43 | Destabilizing | 0.035 | N | 0.272 | neutral | None | None | None | None | N |
| S/H | 0.4507 | ambiguous | 0.5785 | pathogenic | -0.751 | Destabilizing | 0.935 | D | 0.388 | neutral | None | None | None | None | N |
| S/I | 0.3265 | likely_benign | 0.5117 | ambiguous | -0.007 | Destabilizing | 0.38 | N | 0.457 | neutral | None | None | None | None | N |
| S/K | 0.7777 | likely_pathogenic | 0.9034 | pathogenic | -0.199 | Destabilizing | 0.149 | N | 0.252 | neutral | None | None | None | None | N |
| S/L | 0.1726 | likely_benign | 0.2818 | benign | -0.007 | Destabilizing | 0.081 | N | 0.389 | neutral | None | None | None | None | N |
| S/M | 0.3249 | likely_benign | 0.4545 | ambiguous | -0.136 | Destabilizing | 0.824 | D | 0.39 | neutral | None | None | None | None | N |
| S/N | 0.1739 | likely_benign | 0.2066 | benign | -0.122 | Destabilizing | 0.262 | N | 0.379 | neutral | None | None | None | None | N |
| S/P | 0.092 | likely_benign | 0.1247 | benign | -0.066 | Destabilizing | None | N | 0.123 | neutral | N | 0.411979349 | None | None | N |
| S/Q | 0.5938 | likely_pathogenic | 0.737 | pathogenic | -0.224 | Destabilizing | 0.555 | D | 0.366 | neutral | None | None | None | None | N |
| S/R | 0.731 | likely_pathogenic | 0.8838 | pathogenic | -0.089 | Destabilizing | 0.38 | N | 0.395 | neutral | None | None | None | None | N |
| S/T | 0.13 | likely_benign | 0.1529 | benign | -0.205 | Destabilizing | 0.027 | N | 0.309 | neutral | N | 0.453325339 | None | None | N |
| S/V | 0.3286 | likely_benign | 0.4904 | ambiguous | -0.066 | Destabilizing | 0.081 | N | 0.387 | neutral | None | None | None | None | N |
| S/W | 0.4634 | ambiguous | 0.685 | pathogenic | -0.829 | Destabilizing | 0.935 | D | 0.586 | neutral | None | None | None | None | N |
| S/Y | 0.2429 | likely_benign | 0.4065 | ambiguous | -0.494 | Destabilizing | 0.484 | N | 0.456 | neutral | N | 0.454907728 | 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.