Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14823 | 44692;44693;44694 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| N2AB | 13182 | 39769;39770;39771 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| N2A | 12255 | 36988;36989;36990 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| N2B | 5758 | 17497;17498;17499 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| Novex-1 | 5883 | 17872;17873;17874 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| Novex-2 | 5950 | 18073;18074;18075 | chr2:178625354;178625353;178625352 | chr2:179490081;179490080;179490079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs267599051  |
-0.904 | 1.0 | N | 0.667 | 0.368 | 0.28058544554 | gnomAD-2.1.1 | 4.23E-06 | None | None | None | None | N | None | 0 | 3.18E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs267599051 |
-0.904 | 1.0 | N | 0.667 | 0.368 | 0.28058544554 | gnomAD-4.0.0 | 1.62536E-06 | None | None | None | None | N | None | 0 | 2.40999E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5945 | likely_pathogenic | 0.7026 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| R/C | 0.298 | likely_benign | 0.3844 | ambiguous | -0.812 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| R/D | 0.8354 | likely_pathogenic | 0.9009 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| R/E | 0.5118 | ambiguous | 0.6155 | pathogenic | -0.154 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| R/F | 0.7454 | likely_pathogenic | 0.8221 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| R/G | 0.4383 | ambiguous | 0.5687 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.604 | neutral | D | 0.592212404 | None | None | N |
| R/H | 0.1369 | likely_benign | 0.1789 | benign | -1.463 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| R/I | 0.4378 | ambiguous | 0.555 | ambiguous | -0.116 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| R/K | 0.1282 | likely_benign | 0.1669 | benign | -1.01 | Destabilizing | 0.997 | D | 0.477 | neutral | N | 0.497092799 | None | None | N |
| R/L | 0.3868 | ambiguous | 0.476 | ambiguous | -0.116 | Destabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| R/M | 0.4199 | ambiguous | 0.5401 | ambiguous | -0.286 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.508507846 | None | None | N |
| R/N | 0.7221 | likely_pathogenic | 0.8161 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| R/P | 0.8622 | likely_pathogenic | 0.912 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| R/Q | 0.1409 | likely_benign | 0.1814 | benign | -0.63 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| R/S | 0.6729 | likely_pathogenic | 0.7765 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.473135512 | None | None | N |
| R/T | 0.3627 | ambiguous | 0.4825 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.652 | neutral | N | 0.50679902 | None | None | N |
| R/V | 0.5439 | ambiguous | 0.6315 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| R/W | 0.2361 | likely_benign | 0.3115 | benign | -0.509 | Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.634152996 | None | None | N |
| R/Y | 0.5627 | ambiguous | 0.6593 | pathogenic | -0.204 | Destabilizing | 1.0 | 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.