Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21324 | 64195;64196;64197 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| N2AB | 19683 | 59272;59273;59274 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| N2A | 18756 | 56491;56492;56493 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| N2B | 12259 | 37000;37001;37002 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| Novex-1 | 12384 | 37375;37376;37377 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| Novex-2 | 12451 | 37576;37577;37578 | chr2:178587241;178587240;178587239 | chr2:179451968;179451967;179451966 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.999 | N | 0.549 | 0.41 | 0.369495900351 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | None | None | 1.0 | N | 0.776 | 0.463 | 0.419713421852 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0853 | likely_benign | 0.0953 | benign | -0.527 | Destabilizing | 0.998 | D | 0.475 | neutral | None | None | None | None | N |
| S/C | 0.1297 | likely_benign | 0.1312 | benign | -0.22 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.485023403 | None | None | N |
| S/D | 0.6151 | likely_pathogenic | 0.6446 | pathogenic | -0.493 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| S/E | 0.7203 | likely_pathogenic | 0.7182 | pathogenic | -0.38 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| S/F | 0.2316 | likely_benign | 0.2696 | benign | -0.47 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| S/G | 0.1203 | likely_benign | 0.1309 | benign | -0.884 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.485566381 | None | None | N |
| S/H | 0.4436 | ambiguous | 0.4265 | ambiguous | -1.342 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| S/I | 0.218 | likely_benign | 0.2567 | benign | 0.344 | Stabilizing | 1.0 | D | 0.793 | deleterious | N | 0.488377538 | None | None | N |
| S/K | 0.8368 | likely_pathogenic | 0.8337 | pathogenic | -0.364 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| S/L | 0.1323 | likely_benign | 0.1547 | benign | 0.344 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/M | 0.2081 | likely_benign | 0.2305 | benign | 0.341 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| S/N | 0.2082 | likely_benign | 0.2299 | benign | -0.69 | Destabilizing | 0.999 | D | 0.617 | neutral | N | 0.505843152 | None | None | N |
| S/P | 0.8701 | likely_pathogenic | 0.9238 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| S/Q | 0.6056 | likely_pathogenic | 0.5781 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| S/R | 0.7753 | likely_pathogenic | 0.7633 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.504803002 | None | None | N |
| S/T | 0.0809 | likely_benign | 0.0885 | benign | -0.499 | Destabilizing | 0.999 | D | 0.522 | neutral | N | 0.45985736 | None | None | N |
| S/V | 0.1807 | likely_benign | 0.2053 | benign | 0.091 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| S/W | 0.4837 | ambiguous | 0.5015 | ambiguous | -0.676 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/Y | 0.2503 | likely_benign | 0.2862 | benign | -0.272 | Destabilizing | 1.0 | D | 0.837 | deleterious | 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.