Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19038 | 57337;57338;57339 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| N2AB | 17397 | 52414;52415;52416 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| N2A | 16470 | 49633;49634;49635 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| N2B | 9973 | 30142;30143;30144 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| Novex-1 | 10098 | 30517;30518;30519 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| Novex-2 | 10165 | 30718;30719;30720 | chr2:178598058;178598057;178598056 | chr2:179462785;179462784;179462783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1404640641  |
-1.369 | 0.317 | N | 0.495 | 0.08 | 0.0666544352282 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/D | rs1404640641 |
-1.369 | 0.317 | N | 0.495 | 0.08 | 0.0666544352282 | gnomAD-4.0.0 | 3.42789E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69999E-06 | 1.16812E-05 | 1.65915E-05 |
| G/V | rs1404640641 |
-0.207 | None | N | 0.428 | 0.154 | 0.148003135375 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.34003E-04 | None | 0 | 0 | 0 |
| G/V | rs1404640641 |
-0.207 | None | N | 0.428 | 0.154 | 0.148003135375 | gnomAD-4.0.0 | 5.48463E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.34492E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0514 | likely_benign | 0.054 | benign | -0.412 | Destabilizing | None | N | 0.171 | neutral | N | 0.339259165 | None | None | N |
| G/C | 0.1136 | likely_benign | 0.1126 | benign | -0.648 | Destabilizing | 0.78 | D | 0.618 | neutral | N | 0.371352941 | None | None | N |
| G/D | 0.4687 | ambiguous | 0.4258 | ambiguous | -0.897 | Destabilizing | 0.317 | N | 0.495 | neutral | N | 0.440730094 | None | None | N |
| G/E | 0.3825 | ambiguous | 0.3523 | ambiguous | -0.904 | Destabilizing | 0.149 | N | 0.534 | neutral | None | None | None | None | N |
| G/F | 0.5242 | ambiguous | 0.4963 | ambiguous | -0.65 | Destabilizing | 0.555 | D | 0.617 | neutral | None | None | None | None | N |
| G/H | 0.61 | likely_pathogenic | 0.5701 | pathogenic | -1.233 | Destabilizing | 0.935 | D | 0.602 | neutral | None | None | None | None | N |
| G/I | 0.1354 | likely_benign | 0.1284 | benign | 0.101 | Stabilizing | 0.081 | N | 0.533 | neutral | None | None | None | None | N |
| G/K | 0.6718 | likely_pathogenic | 0.6574 | pathogenic | -1.108 | Destabilizing | 0.149 | N | 0.543 | neutral | None | None | None | None | N |
| G/L | 0.2496 | likely_benign | 0.2447 | benign | 0.101 | Stabilizing | 0.035 | N | 0.501 | neutral | None | None | None | None | N |
| G/M | 0.3147 | likely_benign | 0.2913 | benign | -0.02 | Destabilizing | 0.555 | D | 0.622 | neutral | None | None | None | None | N |
| G/N | 0.4408 | ambiguous | 0.406 | ambiguous | -0.851 | Destabilizing | 0.555 | D | 0.483 | neutral | None | None | None | None | N |
| G/P | 0.6367 | likely_pathogenic | 0.6567 | pathogenic | -0.026 | Destabilizing | 0.38 | N | 0.589 | neutral | None | None | None | None | N |
| G/Q | 0.5034 | ambiguous | 0.4881 | ambiguous | -0.908 | Destabilizing | 0.555 | D | 0.599 | neutral | None | None | None | None | N |
| G/R | 0.5754 | likely_pathogenic | 0.5516 | ambiguous | -0.958 | Destabilizing | 0.317 | N | 0.593 | neutral | N | 0.490332195 | None | None | N |
| G/S | 0.1069 | likely_benign | 0.1042 | benign | -1.107 | Destabilizing | 0.027 | N | 0.439 | neutral | N | 0.421874975 | None | None | N |
| G/T | 0.1189 | likely_benign | 0.1085 | benign | -1.018 | Destabilizing | 0.081 | N | 0.516 | neutral | None | None | None | None | N |
| G/V | 0.0811 | likely_benign | 0.0806 | benign | -0.026 | Destabilizing | None | N | 0.428 | neutral | N | 0.296855182 | None | None | N |
| G/W | 0.4945 | ambiguous | 0.4741 | ambiguous | -1.164 | Destabilizing | 0.935 | D | 0.627 | neutral | None | None | None | None | N |
| G/Y | 0.4684 | ambiguous | 0.4362 | ambiguous | -0.647 | Destabilizing | 0.555 | D | 0.635 | 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.