Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31401 | 94426;94427;94428 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| N2AB | 29760 | 89503;89504;89505 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| N2A | 28833 | 86722;86723;86724 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| N2B | 22336 | 67231;67232;67233 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| Novex-1 | 22461 | 67606;67607;67608 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| Novex-2 | 22528 | 67807;67808;67809 | chr2:178547425;178547424;178547423 | chr2:179412152;179412151;179412150 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs879001552  |
-1.234 | None | N | 0.198 | 0.161 | None | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.29E-06 | 0 |
| I/T | rs879001552 |
-1.234 | None | N | 0.198 | 0.161 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| I/T | rs879001552 |
-1.234 | None | N | 0.198 | 0.161 | None | gnomAD-4.0.0 | 7.81057E-06 | None | None | None | None | I | None | 1.69981E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.32701E-06 | 1.35752E-05 | 2.89017E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1966 | likely_benign | 0.2148 | benign | -1.347 | Destabilizing | 0.003 | N | 0.329 | neutral | None | None | None | None | I |
| I/C | 0.5342 | ambiguous | 0.5632 | ambiguous | -0.867 | Destabilizing | 0.204 | N | 0.387 | neutral | None | None | None | None | I |
| I/D | 0.722 | likely_pathogenic | 0.7805 | pathogenic | -0.758 | Destabilizing | 0.035 | N | 0.616 | neutral | None | None | None | None | I |
| I/E | 0.4959 | ambiguous | 0.5407 | ambiguous | -0.762 | Destabilizing | 0.035 | N | 0.531 | neutral | None | None | None | None | I |
| I/F | 0.1724 | likely_benign | 0.2028 | benign | -0.842 | Destabilizing | 0.026 | N | 0.369 | neutral | N | 0.466539257 | None | None | I |
| I/G | 0.5798 | likely_pathogenic | 0.5945 | pathogenic | -1.65 | Destabilizing | 0.035 | N | 0.527 | neutral | None | None | None | None | I |
| I/H | 0.4076 | ambiguous | 0.4613 | ambiguous | -0.775 | Destabilizing | 0.439 | N | 0.442 | neutral | None | None | None | None | I |
| I/K | 0.2152 | likely_benign | 0.2587 | benign | -0.97 | Destabilizing | 0.035 | N | 0.583 | neutral | None | None | None | None | I |
| I/L | 0.1 | likely_benign | 0.1076 | benign | -0.603 | Destabilizing | 0.001 | N | 0.149 | neutral | N | 0.474666523 | None | None | I |
| I/M | 0.0964 | likely_benign | 0.1012 | benign | -0.537 | Destabilizing | 0.087 | N | 0.378 | neutral | N | 0.483864796 | None | None | I |
| I/N | 0.3267 | likely_benign | 0.3589 | ambiguous | -0.816 | Destabilizing | 0.026 | N | 0.633 | neutral | N | 0.466539257 | None | None | I |
| I/P | 0.7145 | likely_pathogenic | 0.7269 | pathogenic | -0.818 | Destabilizing | 0.068 | N | 0.645 | neutral | None | None | None | None | I |
| I/Q | 0.3027 | likely_benign | 0.3174 | benign | -0.978 | Destabilizing | 0.204 | N | 0.607 | neutral | None | None | None | None | I |
| I/R | 0.1615 | likely_benign | 0.1962 | benign | -0.366 | Destabilizing | 0.112 | N | 0.637 | neutral | None | None | None | None | I |
| I/S | 0.2438 | likely_benign | 0.2663 | benign | -1.402 | Destabilizing | 0.006 | N | 0.384 | neutral | N | 0.511317969 | None | None | I |
| I/T | 0.0797 | likely_benign | 0.088 | benign | -1.29 | Destabilizing | None | N | 0.198 | neutral | N | 0.486286239 | None | None | I |
| I/V | 0.0487 | likely_benign | 0.0486 | benign | -0.818 | Destabilizing | None | N | 0.047 | neutral | N | 0.391261279 | None | None | I |
| I/W | 0.7148 | likely_pathogenic | 0.7685 | pathogenic | -0.903 | Destabilizing | 0.747 | D | 0.478 | neutral | None | None | None | None | I |
| I/Y | 0.4787 | ambiguous | 0.5407 | ambiguous | -0.687 | Destabilizing | 0.068 | N | 0.614 | 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.