Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33244 | 99955;99956;99957 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| N2AB | 31603 | 95032;95033;95034 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| N2A | 30676 | 92251;92252;92253 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| N2B | 24179 | 72760;72761;72762 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| Novex-1 | 24304 | 73135;73136;73137 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| Novex-2 | 24371 | 73336;73337;73338 | chr2:178537477;178537476;178537475 | chr2:179402204;179402203;179402202 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1282327572  |
-0.185 | 0.006 | N | 0.185 | 0.209 | 0.270447802918 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| T/N | None | None | 0.639 | N | 0.373 | 0.191 | 0.27855597813 | gnomAD-4.0.0 | 1.59177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85896E-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 | 0.0858 | likely_benign | 0.0873 | benign | -0.998 | Destabilizing | None | N | 0.144 | neutral | N | 0.492095569 | None | None | N |
| T/C | 0.4163 | ambiguous | 0.4344 | ambiguous | -0.771 | Destabilizing | 0.968 | D | 0.4 | neutral | None | None | None | None | N |
| T/D | 0.4319 | ambiguous | 0.4599 | ambiguous | -0.672 | Destabilizing | 0.536 | D | 0.371 | neutral | None | None | None | None | N |
| T/E | 0.349 | ambiguous | 0.3558 | ambiguous | -0.634 | Destabilizing | 0.523 | D | 0.351 | neutral | None | None | None | None | N |
| T/F | 0.2386 | likely_benign | 0.268 | benign | -1.041 | Destabilizing | 0.967 | D | 0.434 | neutral | None | None | None | None | N |
| T/G | 0.338 | likely_benign | 0.3446 | ambiguous | -1.281 | Destabilizing | 0.58 | D | 0.393 | neutral | None | None | None | None | N |
| T/H | 0.2558 | likely_benign | 0.2611 | benign | -1.569 | Destabilizing | 0.992 | D | 0.461 | neutral | None | None | None | None | N |
| T/I | 0.1418 | likely_benign | 0.1443 | benign | -0.32 | Destabilizing | 0.006 | N | 0.185 | neutral | N | 0.448691508 | None | None | N |
| T/K | 0.2663 | likely_benign | 0.2804 | benign | -0.77 | Destabilizing | 0.605 | D | 0.351 | neutral | None | None | None | None | N |
| T/L | 0.1224 | likely_benign | 0.1267 | benign | -0.32 | Destabilizing | 0.122 | N | 0.299 | neutral | None | None | None | None | N |
| T/M | 0.1069 | likely_benign | 0.1049 | benign | -0.004 | Destabilizing | 0.916 | D | 0.407 | neutral | None | None | None | None | N |
| T/N | 0.1372 | likely_benign | 0.1439 | benign | -0.876 | Destabilizing | 0.639 | D | 0.373 | neutral | N | 0.486380318 | None | None | N |
| T/P | 0.6256 | likely_pathogenic | 0.6385 | pathogenic | -0.514 | Destabilizing | 0.466 | N | 0.381 | neutral | N | 0.483010211 | None | None | N |
| T/Q | 0.2444 | likely_benign | 0.2475 | benign | -1.044 | Destabilizing | 0.836 | D | 0.409 | neutral | None | None | None | None | N |
| T/R | 0.2165 | likely_benign | 0.2268 | benign | -0.587 | Destabilizing | 0.935 | D | 0.393 | neutral | None | None | None | None | N |
| T/S | 0.1149 | likely_benign | 0.1191 | benign | -1.166 | Destabilizing | 0.016 | N | 0.337 | neutral | N | 0.454057256 | None | None | N |
| T/V | 0.1224 | likely_benign | 0.126 | benign | -0.514 | Destabilizing | 0.006 | N | 0.148 | neutral | None | None | None | None | N |
| T/W | 0.6379 | likely_pathogenic | 0.6643 | pathogenic | -0.965 | Destabilizing | 0.997 | D | 0.507 | neutral | None | None | None | None | N |
| T/Y | 0.2981 | likely_benign | 0.3204 | benign | -0.704 | Destabilizing | 0.989 | D | 0.469 | 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.