Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30784 | 92575;92576;92577 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| N2AB | 29143 | 87652;87653;87654 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| N2A | 28216 | 84871;84872;84873 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| N2B | 21719 | 65380;65381;65382 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| Novex-1 | 21844 | 65755;65756;65757 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| Novex-2 | 21911 | 65956;65957;65958 | chr2:178549276;178549275;178549274 | chr2:179414003;179414002;179414001 |
| 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/C | rs979303656  |
-0.547 | 0.997 | D | 0.674 | 0.448 | 0.575514189583 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29463E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs979303656 |
-0.547 | 0.997 | D | 0.674 | 0.448 | 0.575514189583 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs979303656 |
-0.547 | 0.997 | D | 0.674 | 0.448 | 0.575514189583 | gnomAD-4.0.0 | 1.31427E-05 | None | None | None | None | N | None | 4.82532E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs979303656 |
-0.101 | 0.942 | N | 0.595 | 0.379 | 0.481246930725 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs979303656 |
-0.101 | 0.942 | N | 0.595 | 0.379 | 0.481246930725 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20633E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs979303656 |
-0.101 | 0.942 | N | 0.595 | 0.379 | 0.481246930725 | gnomAD-4.0.0 | 4.33758E-06 | None | None | None | None | N | None | 8.00961E-05 | 1.66689E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1984 | likely_benign | 0.2101 | benign | -0.211 | Destabilizing | 0.698 | D | 0.385 | neutral | N | 0.521373725 | None | None | N |
| G/C | 0.268 | likely_benign | 0.2908 | benign | -0.824 | Destabilizing | 0.997 | D | 0.674 | neutral | D | 0.533997478 | None | None | N |
| G/D | 0.3996 | ambiguous | 0.4061 | ambiguous | -0.227 | Destabilizing | 0.698 | D | 0.521 | neutral | N | 0.473600965 | None | None | N |
| G/E | 0.5393 | ambiguous | 0.5368 | ambiguous | -0.389 | Destabilizing | 0.956 | D | 0.535 | neutral | None | None | None | None | N |
| G/F | 0.7182 | likely_pathogenic | 0.7485 | pathogenic | -0.959 | Destabilizing | 0.978 | D | 0.671 | neutral | None | None | None | None | N |
| G/H | 0.5066 | ambiguous | 0.51 | ambiguous | -0.442 | Destabilizing | 0.994 | D | 0.597 | neutral | None | None | None | None | N |
| G/I | 0.6172 | likely_pathogenic | 0.6343 | pathogenic | -0.371 | Destabilizing | 0.978 | D | 0.675 | neutral | None | None | None | None | N |
| G/K | 0.7893 | likely_pathogenic | 0.7799 | pathogenic | -0.576 | Destabilizing | 0.915 | D | 0.537 | neutral | None | None | None | None | N |
| G/L | 0.585 | likely_pathogenic | 0.6343 | pathogenic | -0.371 | Destabilizing | 0.956 | D | 0.651 | neutral | None | None | None | None | N |
| G/M | 0.6134 | likely_pathogenic | 0.6401 | pathogenic | -0.423 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| G/N | 0.2283 | likely_benign | 0.2513 | benign | -0.248 | Destabilizing | 0.076 | N | 0.195 | neutral | None | None | None | None | N |
| G/P | 0.9411 | likely_pathogenic | 0.9517 | pathogenic | -0.286 | Destabilizing | 0.978 | D | 0.581 | neutral | None | None | None | None | N |
| G/Q | 0.5342 | ambiguous | 0.529 | ambiguous | -0.511 | Destabilizing | 0.956 | D | 0.581 | neutral | None | None | None | None | N |
| G/R | 0.6283 | likely_pathogenic | 0.6218 | pathogenic | -0.203 | Destabilizing | 0.942 | D | 0.595 | neutral | N | 0.48640621 | None | None | N |
| G/S | 0.1056 | likely_benign | 0.1137 | benign | -0.436 | Destabilizing | 0.058 | N | 0.275 | neutral | N | 0.48636653 | None | None | N |
| G/T | 0.2808 | likely_benign | 0.2957 | benign | -0.519 | Destabilizing | 0.754 | D | 0.538 | neutral | None | None | None | None | N |
| G/V | 0.4631 | ambiguous | 0.4836 | ambiguous | -0.286 | Destabilizing | 0.942 | D | 0.662 | neutral | D | 0.545011389 | None | None | N |
| G/W | 0.6085 | likely_pathogenic | 0.6241 | pathogenic | -1.102 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | N |
| G/Y | 0.5586 | ambiguous | 0.5655 | pathogenic | -0.738 | Destabilizing | 0.998 | D | 0.671 | 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.