Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2394 | 7405;7406;7407 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| N2AB | 2394 | 7405;7406;7407 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| N2A | 2394 | 7405;7406;7407 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| N2B | 2348 | 7267;7268;7269 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| Novex-1 | 2348 | 7267;7268;7269 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| Novex-2 | 2348 | 7267;7268;7269 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
| Novex-3 | 2394 | 7405;7406;7407 | chr2:178773988;178773987;178773986 | chr2:179638715;179638714;179638713 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/Q | rs537269762  |
0.171 | 0.986 | D | 0.447 | 0.268 | 0.355242300401 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs537269762 |
0.171 | 0.986 | D | 0.447 | 0.268 | 0.355242300401 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 4.58355E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs537269762 |
0.171 | 0.986 | D | 0.447 | 0.268 | 0.355242300401 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| E/Q | rs537269762 |
0.171 | 0.986 | D | 0.447 | 0.268 | 0.355242300401 | gnomAD-4.0.0 | 1.53653E-05 | None | None | None | None | N | None | 0 | 1.86377E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84026E-05 |
| E/V | rs929251010 |
None | 0.92 | N | 0.389 | 0.307 | 0.642492775995 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.0938 | likely_benign | 0.0944 | benign | -0.536 | Destabilizing | 0.061 | N | 0.194 | neutral | N | 0.511193744 | None | None | N |
| E/C | 0.7182 | likely_pathogenic | 0.7415 | pathogenic | -0.264 | Destabilizing | 0.999 | D | 0.443 | neutral | None | None | None | None | N |
| E/D | 0.1687 | likely_benign | 0.1757 | benign | -0.576 | Destabilizing | 0.959 | D | 0.439 | neutral | D | 0.573987469 | None | None | N |
| E/F | 0.5751 | likely_pathogenic | 0.6059 | pathogenic | -0.307 | Destabilizing | 0.997 | D | 0.445 | neutral | None | None | None | None | N |
| E/G | 0.1811 | likely_benign | 0.191 | benign | -0.777 | Destabilizing | 0.92 | D | 0.412 | neutral | D | 0.604656531 | None | None | N |
| E/H | 0.3896 | ambiguous | 0.4002 | ambiguous | -0.194 | Destabilizing | 0.997 | D | 0.423 | neutral | None | None | None | None | N |
| E/I | 0.1505 | likely_benign | 0.1563 | benign | 0.084 | Stabilizing | 0.991 | D | 0.445 | neutral | None | None | None | None | N |
| E/K | 0.1067 | likely_benign | 0.1107 | benign | -0.11 | Destabilizing | 0.959 | D | 0.461 | neutral | N | 0.51049968 | None | None | N |
| E/L | 0.203 | likely_benign | 0.2104 | benign | 0.084 | Stabilizing | 0.939 | D | 0.405 | neutral | None | None | None | None | N |
| E/M | 0.243 | likely_benign | 0.2498 | benign | 0.192 | Stabilizing | 0.999 | D | 0.427 | neutral | None | None | None | None | N |
| E/N | 0.2289 | likely_benign | 0.2387 | benign | -0.412 | Destabilizing | 0.997 | D | 0.429 | neutral | None | None | None | None | N |
| E/P | 0.2418 | likely_benign | 0.2423 | benign | -0.102 | Destabilizing | 0.046 | N | 0.239 | neutral | None | None | None | None | N |
| E/Q | 0.1159 | likely_benign | 0.115 | benign | -0.356 | Destabilizing | 0.986 | D | 0.447 | neutral | D | 0.545860394 | None | None | N |
| E/R | 0.1983 | likely_benign | 0.2049 | benign | 0.185 | Stabilizing | 0.991 | D | 0.422 | neutral | None | None | None | None | N |
| E/S | 0.1775 | likely_benign | 0.1826 | benign | -0.605 | Destabilizing | 0.759 | D | 0.415 | neutral | None | None | None | None | N |
| E/T | 0.146 | likely_benign | 0.1507 | benign | -0.418 | Destabilizing | 0.939 | D | 0.383 | neutral | None | None | None | None | N |
| E/V | 0.0954 | likely_benign | 0.0972 | benign | -0.102 | Destabilizing | 0.92 | D | 0.389 | neutral | N | 0.508533363 | None | None | N |
| E/W | 0.8455 | likely_pathogenic | 0.8632 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.536 | neutral | None | None | None | None | N |
| E/Y | 0.4916 | ambiguous | 0.5202 | ambiguous | -0.08 | Destabilizing | 0.997 | D | 0.441 | 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.