Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2547 | 7864;7865;7866 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| N2AB | 2547 | 7864;7865;7866 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| N2A | 2547 | 7864;7865;7866 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| N2B | 2501 | 7726;7727;7728 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| Novex-1 | 2501 | 7726;7727;7728 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| Novex-2 | 2501 | 7726;7727;7728 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
| Novex-3 | 2547 | 7864;7865;7866 | chr2:178773325;178773324;178773323 | chr2:179638052;179638051;179638050 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs984424988  |
None | 0.948 | N | 0.518 | 0.364 | 0.362361684037 | 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 |
| T/I | None | None | 0.998 | D | 0.541 | 0.494 | 0.712238429313 | gnomAD-4.0.0 | 3.18168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71344E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2853 | likely_benign | 0.3429 | ambiguous | -0.402 | Destabilizing | 0.948 | D | 0.518 | neutral | N | 0.506913331 | None | None | N |
| T/C | 0.8287 | likely_pathogenic | 0.8822 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.57 | neutral | None | None | None | None | N |
| T/D | 0.7221 | likely_pathogenic | 0.7688 | pathogenic | -0.159 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| T/E | 0.6621 | likely_pathogenic | 0.6982 | pathogenic | -0.234 | Destabilizing | 0.998 | D | 0.567 | neutral | None | None | None | None | N |
| T/F | 0.7234 | likely_pathogenic | 0.7983 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| T/G | 0.4351 | ambiguous | 0.4952 | ambiguous | -0.555 | Destabilizing | 0.992 | D | 0.573 | neutral | None | None | None | None | N |
| T/H | 0.6679 | likely_pathogenic | 0.7201 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | None | N |
| T/I | 0.7287 | likely_pathogenic | 0.7869 | pathogenic | -0.11 | Destabilizing | 0.998 | D | 0.541 | neutral | D | 0.532773494 | None | None | N |
| T/K | 0.5196 | ambiguous | 0.5522 | ambiguous | -0.451 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| T/L | 0.3845 | ambiguous | 0.4667 | ambiguous | -0.11 | Destabilizing | 0.996 | D | 0.579 | neutral | None | None | None | None | N |
| T/M | 0.1918 | likely_benign | 0.2333 | benign | 0.244 | Stabilizing | 1.0 | D | 0.566 | neutral | None | None | None | None | N |
| T/N | 0.2784 | likely_benign | 0.3308 | benign | -0.182 | Destabilizing | 0.997 | D | 0.542 | neutral | N | 0.491605019 | None | None | N |
| T/P | 0.6477 | likely_pathogenic | 0.6719 | pathogenic | -0.178 | Destabilizing | 0.998 | D | 0.541 | neutral | D | 0.531661587 | None | None | N |
| T/Q | 0.5518 | ambiguous | 0.5802 | pathogenic | -0.475 | Destabilizing | 0.999 | D | 0.548 | neutral | None | None | None | None | N |
| T/R | 0.5204 | ambiguous | 0.5448 | ambiguous | -0.12 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| T/S | 0.234 | likely_benign | 0.2964 | benign | -0.368 | Destabilizing | 0.775 | D | 0.315 | neutral | N | 0.483578849 | None | None | N |
| T/V | 0.6097 | likely_pathogenic | 0.6709 | pathogenic | -0.178 | Destabilizing | 0.996 | D | 0.539 | neutral | None | None | None | None | N |
| T/W | 0.9043 | likely_pathogenic | 0.9335 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.558 | neutral | None | None | None | None | N |
| T/Y | 0.6911 | likely_pathogenic | 0.7464 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.559 | 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.