Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18752 | 56479;56480;56481 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| N2AB | 17111 | 51556;51557;51558 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| N2A | 16184 | 48775;48776;48777 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| N2B | 9687 | 29284;29285;29286 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| Novex-1 | 9812 | 29659;29660;29661 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| Novex-2 | 9879 | 29860;29861;29862 | chr2:178599647;178599646;178599645 | chr2:179464374;179464373;179464372 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs200132226  |
-0.808 | 0.676 | N | 0.441 | 0.19 | None | gnomAD-2.1.1 | 1.57529E-04 | None | None | None | None | N | None | 4.14E-05 | 5.68E-05 | None | 9.7E-05 | 5.15E-05 | None | 0 | None | 4.01E-05 | 2.82061E-04 | 2.81928E-04 |
| P/L | rs200132226 |
-0.808 | 0.676 | N | 0.441 | 0.19 | None | gnomAD-3.1.2 | 1.38192E-04 | None | None | None | None | N | None | 2.42E-05 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.64815E-04 | 0 | 0 |
| P/L | rs200132226 |
-0.808 | 0.676 | N | 0.441 | 0.19 | None | gnomAD-4.0.0 | 1.99676E-04 | None | None | None | None | N | None | 5.34745E-05 | 6.67601E-05 | None | 3.38158E-05 | 0 | None | 1.56362E-05 | 1.6469E-04 | 2.57784E-04 | 2.19988E-05 | 8.01025E-05 |
| P/Q | rs200132226 |
-1.249 | 0.008 | N | 0.162 | 0.112 | 0.284539287134 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs200132226 |
-1.249 | 0.008 | N | 0.162 | 0.112 | 0.284539287134 | gnomAD-4.0.0 | 2.05387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5236E-05 | None | 0 | 0 | 8.99841E-07 | 0 | 1.65761E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1134 | likely_benign | 0.1064 | benign | -1.592 | Destabilizing | 0.002 | N | 0.177 | neutral | N | 0.454769332 | None | None | N |
| P/C | 0.5317 | ambiguous | 0.4691 | ambiguous | -1.267 | Destabilizing | 0.995 | D | 0.487 | neutral | None | None | None | None | N |
| P/D | 0.4395 | ambiguous | 0.3926 | ambiguous | -2.159 | Highly Destabilizing | 0.704 | D | 0.429 | neutral | None | None | None | None | N |
| P/E | 0.2586 | likely_benign | 0.2372 | benign | -2.184 | Highly Destabilizing | 0.329 | N | 0.369 | neutral | None | None | None | None | N |
| P/F | 0.5375 | ambiguous | 0.4572 | ambiguous | -1.458 | Destabilizing | 0.944 | D | 0.523 | neutral | None | None | None | None | N |
| P/G | 0.2902 | likely_benign | 0.2538 | benign | -1.88 | Destabilizing | 0.329 | N | 0.456 | neutral | None | None | None | None | N |
| P/H | 0.1968 | likely_benign | 0.1785 | benign | -1.42 | Destabilizing | 0.944 | D | 0.493 | neutral | None | None | None | None | N |
| P/I | 0.3737 | ambiguous | 0.3052 | benign | -0.899 | Destabilizing | 0.543 | D | 0.525 | neutral | None | None | None | None | N |
| P/K | 0.2713 | likely_benign | 0.2156 | benign | -1.4 | Destabilizing | 0.329 | N | 0.405 | neutral | None | None | None | None | N |
| P/L | 0.1434 | likely_benign | 0.1273 | benign | -0.899 | Destabilizing | 0.676 | D | 0.441 | neutral | N | 0.447478 | None | None | N |
| P/M | 0.3622 | ambiguous | 0.3077 | benign | -0.62 | Destabilizing | 0.944 | D | 0.499 | neutral | None | None | None | None | N |
| P/N | 0.2796 | likely_benign | 0.2426 | benign | -1.282 | Destabilizing | 0.704 | D | 0.493 | neutral | None | None | None | None | N |
| P/Q | 0.1442 | likely_benign | 0.1334 | benign | -1.543 | Destabilizing | 0.008 | N | 0.162 | neutral | N | 0.396625105 | None | None | N |
| P/R | 0.1921 | likely_benign | 0.1624 | benign | -0.766 | Destabilizing | 0.695 | D | 0.471 | neutral | N | 0.426852012 | None | None | N |
| P/S | 0.1284 | likely_benign | 0.1185 | benign | -1.701 | Destabilizing | 0.27 | N | 0.419 | neutral | N | 0.412613278 | None | None | N |
| P/T | 0.1193 | likely_benign | 0.1065 | benign | -1.627 | Destabilizing | 0.425 | N | 0.414 | neutral | N | 0.438781159 | None | None | N |
| P/V | 0.2714 | likely_benign | 0.2268 | benign | -1.097 | Destabilizing | 0.013 | N | 0.269 | neutral | None | None | None | None | N |
| P/W | 0.6593 | likely_pathogenic | 0.5926 | pathogenic | -1.654 | Destabilizing | 0.995 | D | 0.516 | neutral | None | None | None | None | N |
| P/Y | 0.4466 | ambiguous | 0.3715 | ambiguous | -1.363 | Destabilizing | 0.981 | D | 0.527 | 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.