Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18984 | 57175;57176;57177 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| N2AB | 17343 | 52252;52253;52254 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| N2A | 16416 | 49471;49472;49473 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| N2B | 9919 | 29980;29981;29982 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| Novex-1 | 10044 | 30355;30356;30357 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| Novex-2 | 10111 | 30556;30557;30558 | chr2:178598760;178598759;178598758 | chr2:179463487;179463486;179463485 |
| 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/G | None | None | 0.999 | N | 0.665 | 0.251 | 0.429780353351 | gnomAD-4.0.0 | 6.85385E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5227E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | None | None | 0.999 | N | 0.749 | 0.351 | 0.430351802785 | gnomAD-4.0.0 | 2.0539E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5342 | ambiguous | 0.5223 | ambiguous | -0.297 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| R/C | 0.168 | likely_benign | 0.1916 | benign | -0.164 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| R/D | 0.8511 | likely_pathogenic | 0.8439 | pathogenic | 0.028 | Stabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| R/E | 0.4807 | ambiguous | 0.4853 | ambiguous | 0.118 | Stabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/F | 0.6399 | likely_pathogenic | 0.6562 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| R/G | 0.4479 | ambiguous | 0.4476 | ambiguous | -0.565 | Destabilizing | 0.999 | D | 0.665 | prob.neutral | N | 0.48454138 | None | None | N |
| R/H | 0.1428 | likely_benign | 0.1517 | benign | -1.059 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| R/I | 0.3541 | ambiguous | 0.3593 | ambiguous | 0.397 | Stabilizing | 0.999 | D | 0.83 | deleterious | N | 0.485808828 | None | None | N |
| R/K | 0.1096 | likely_benign | 0.1122 | benign | -0.309 | Destabilizing | 0.994 | D | 0.578 | neutral | N | 0.475050525 | None | None | N |
| R/L | 0.3456 | ambiguous | 0.3636 | ambiguous | 0.397 | Stabilizing | 0.999 | D | 0.665 | prob.neutral | None | None | None | None | N |
| R/M | 0.3575 | ambiguous | 0.3623 | ambiguous | 0.087 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/N | 0.7284 | likely_pathogenic | 0.7349 | pathogenic | 0.214 | Stabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| R/P | 0.9772 | likely_pathogenic | 0.9759 | pathogenic | 0.187 | Stabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| R/Q | 0.1145 | likely_benign | 0.1212 | benign | 0.032 | Stabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| R/S | 0.619 | likely_pathogenic | 0.6212 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.753 | deleterious | N | 0.47327398 | None | None | N |
| R/T | 0.3472 | ambiguous | 0.3462 | ambiguous | -0.102 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.485555338 | None | None | N |
| R/V | 0.3901 | ambiguous | 0.4025 | ambiguous | 0.187 | Stabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| R/W | 0.27 | likely_benign | 0.3032 | benign | -0.164 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| R/Y | 0.4904 | ambiguous | 0.5335 | ambiguous | 0.191 | Stabilizing | 0.999 | D | 0.854 | 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.