Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29959 | 90100;90101;90102 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| N2AB | 28318 | 85177;85178;85179 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| N2A | 27391 | 82396;82397;82398 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| N2B | 20894 | 62905;62906;62907 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| Novex-1 | 21019 | 63280;63281;63282 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| Novex-2 | 21086 | 63481;63482;63483 | chr2:178553025;178553024;178553023 | chr2:179417752;179417751;179417750 |
| 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/L | None | None | 0.126 | N | 0.242 | 0.081 | 0.336155897331 | gnomAD-4.0.0 | 1.20046E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31265E-06 | 0 | 0 |
| I/T | rs374906767  |
-0.558 | 0.822 | N | 0.435 | 0.251 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs374906767 |
-0.558 | 0.822 | N | 0.435 | 0.251 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs374906767 |
-0.558 | 0.822 | N | 0.435 | 0.251 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/T | rs374906767 |
-0.558 | 0.822 | N | 0.435 | 0.251 | None | gnomAD-4.0.0 | 4.96346E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.23204E-05 | None | 0 | 0 | 4.23816E-06 | 2.19611E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3466 | ambiguous | 0.3433 | ambiguous | -0.711 | Destabilizing | 0.754 | D | 0.428 | neutral | None | None | None | None | I |
| I/C | 0.77 | likely_pathogenic | 0.7685 | pathogenic | -0.711 | Destabilizing | 0.998 | D | 0.483 | neutral | None | None | None | None | I |
| I/D | 0.6794 | likely_pathogenic | 0.7143 | pathogenic | -0.167 | Destabilizing | 0.993 | D | 0.658 | neutral | None | None | None | None | I |
| I/E | 0.6219 | likely_pathogenic | 0.6428 | pathogenic | -0.253 | Destabilizing | 0.978 | D | 0.657 | neutral | None | None | None | None | I |
| I/F | 0.2208 | likely_benign | 0.2136 | benign | -0.68 | Destabilizing | 0.942 | D | 0.425 | neutral | N | 0.501410407 | None | None | I |
| I/G | 0.7321 | likely_pathogenic | 0.7542 | pathogenic | -0.881 | Destabilizing | 0.978 | D | 0.645 | neutral | None | None | None | None | I |
| I/H | 0.5578 | ambiguous | 0.5671 | pathogenic | -0.157 | Destabilizing | 0.998 | D | 0.634 | neutral | None | None | None | None | I |
| I/K | 0.5281 | ambiguous | 0.5353 | ambiguous | -0.405 | Destabilizing | 0.956 | D | 0.65 | neutral | None | None | None | None | I |
| I/L | 0.1148 | likely_benign | 0.1096 | benign | -0.383 | Destabilizing | 0.126 | N | 0.242 | neutral | N | 0.493001567 | None | None | I |
| I/M | 0.1197 | likely_benign | 0.1138 | benign | -0.448 | Destabilizing | 0.126 | N | 0.345 | neutral | N | 0.476427532 | None | None | I |
| I/N | 0.2508 | likely_benign | 0.2818 | benign | -0.232 | Destabilizing | 0.971 | D | 0.658 | neutral | N | 0.428894161 | None | None | I |
| I/P | 0.8736 | likely_pathogenic | 0.872 | pathogenic | -0.459 | Destabilizing | 0.993 | D | 0.661 | neutral | None | None | None | None | I |
| I/Q | 0.4925 | ambiguous | 0.5035 | ambiguous | -0.447 | Destabilizing | 0.978 | D | 0.656 | neutral | None | None | None | None | I |
| I/R | 0.3976 | ambiguous | 0.4038 | ambiguous | 0.144 | Stabilizing | 0.956 | D | 0.659 | neutral | None | None | None | None | I |
| I/S | 0.2887 | likely_benign | 0.3029 | benign | -0.702 | Destabilizing | 0.942 | D | 0.467 | neutral | N | 0.449288075 | None | None | I |
| I/T | 0.1715 | likely_benign | 0.172 | benign | -0.676 | Destabilizing | 0.822 | D | 0.435 | neutral | N | 0.490019977 | None | None | I |
| I/V | 0.1106 | likely_benign | 0.1074 | benign | -0.459 | Destabilizing | 0.294 | N | 0.309 | neutral | N | 0.469279346 | None | None | I |
| I/W | 0.7488 | likely_pathogenic | 0.7357 | pathogenic | -0.686 | Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | I |
| I/Y | 0.556 | ambiguous | 0.5442 | ambiguous | -0.443 | Destabilizing | 0.978 | D | 0.478 | 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.