Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7237 | 21934;21935;21936 | chr2:178723298;178723297;178723296 | chr2:179588025;179588024;179588023 |
| N2AB | 6920 | 20983;20984;20985 | chr2:178723298;178723297;178723296 | chr2:179588025;179588024;179588023 |
| N2A | 5993 | 18202;18203;18204 | chr2:178723298;178723297;178723296 | chr2:179588025;179588024;179588023 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | None | None | 0.978 | N | 0.378 | 0.484 | 0.424670345773 | gnomAD-4.0.0 | 1.36945E-06 | None | None | Phosphoserine | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79974E-06 | 0 | 0 |
| S/N | rs769315703  |
-0.182 | 0.002 | N | 0.156 | 0.068 | 0.143124449307 | gnomAD-2.1.1 | 4.06E-06 | None | None | Phosphoserine | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| S/R | None | None | 0.002 | N | 0.277 | 0.201 | 0.112648838833 | gnomAD-4.0.0 | 1.59411E-06 | None | None | Phosphoserine | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86231E-06 | 0 | 0 |
| S/T | rs769315703 |
-0.179 | 0.183 | N | 0.283 | 0.071 | 0.144782658237 | gnomAD-2.1.1 | 4.06E-06 | None | None | Phosphoserine | None | I | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs769315703 |
-0.179 | 0.183 | N | 0.283 | 0.071 | 0.144782658237 | gnomAD-3.1.2 | 6.57E-06 | None | None | Phosphoserine | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs769315703 |
-0.179 | 0.183 | N | 0.283 | 0.071 | 0.144782658237 | gnomAD-4.0.0 | 2.02999E-06 | None | None | Phosphoserine | None | I | None | 1.7474E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20496E-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 | 0.0755 | likely_benign | 0.0774 | benign | -0.273 | Destabilizing | 0.061 | N | 0.246 | neutral | None | None | Phosphoserine | None | I |
| S/C | 0.1278 | likely_benign | 0.1281 | benign | -0.322 | Destabilizing | 0.978 | D | 0.378 | neutral | N | 0.504383377 | Phosphoserine | None | I |
| S/D | 0.2629 | likely_benign | 0.2853 | benign | 0.094 | Stabilizing | 0.002 | N | 0.096 | neutral | None | None | Phosphoserine | None | I |
| S/E | 0.3635 | ambiguous | 0.3863 | ambiguous | None | Stabilizing | 0.129 | N | 0.265 | neutral | None | None | Phosphoserine | None | I |
| S/F | 0.1689 | likely_benign | 0.1963 | benign | -0.918 | Destabilizing | 0.94 | D | 0.416 | neutral | None | None | Phosphoserine | None | I |
| S/G | 0.082 | likely_benign | 0.0822 | benign | -0.367 | Destabilizing | 0.001 | N | 0.077 | neutral | N | 0.485265164 | Phosphoserine | None | I |
| S/H | 0.2557 | likely_benign | 0.2604 | benign | -0.771 | Destabilizing | 0.836 | D | 0.402 | neutral | None | None | Phosphoserine | None | I |
| S/I | 0.1297 | likely_benign | 0.1444 | benign | -0.157 | Destabilizing | 0.794 | D | 0.442 | neutral | N | 0.503622908 | Phosphoserine | None | I |
| S/K | 0.4018 | ambiguous | 0.4277 | ambiguous | -0.441 | Destabilizing | 0.001 | N | 0.079 | neutral | None | None | Phosphoserine | None | I |
| S/L | 0.0928 | likely_benign | 0.1015 | benign | -0.157 | Destabilizing | 0.418 | N | 0.407 | neutral | None | None | Phosphoserine | None | I |
| S/M | 0.1948 | likely_benign | 0.2074 | benign | -0.08 | Destabilizing | 0.94 | D | 0.391 | neutral | None | None | Phosphoserine | None | I |
| S/N | 0.0932 | likely_benign | 0.0973 | benign | -0.173 | Destabilizing | 0.002 | N | 0.156 | neutral | N | 0.482342722 | Phosphoserine | None | I |
| S/P | 0.1583 | likely_benign | 0.1639 | benign | -0.168 | Destabilizing | 0.593 | D | 0.429 | neutral | None | None | Phosphoserine | None | I |
| S/Q | 0.3573 | ambiguous | 0.3672 | ambiguous | -0.394 | Destabilizing | 0.027 | N | 0.196 | neutral | None | None | Phosphoserine | None | I |
| S/R | 0.3161 | likely_benign | 0.3414 | ambiguous | -0.204 | Destabilizing | 0.002 | N | 0.277 | neutral | N | 0.478974343 | Phosphoserine | None | I |
| S/T | 0.0764 | likely_benign | 0.0767 | benign | -0.259 | Destabilizing | 0.183 | N | 0.283 | neutral | N | 0.461159374 | Phosphoserine | None | I |
| S/V | 0.1545 | likely_benign | 0.1713 | benign | -0.168 | Destabilizing | 0.593 | D | 0.439 | neutral | None | None | Phosphoserine | None | I |
| S/W | 0.2866 | likely_benign | 0.2948 | benign | -0.968 | Destabilizing | 0.983 | D | 0.411 | neutral | None | None | Phosphoserine | None | I |
| S/Y | 0.156 | likely_benign | 0.1786 | benign | -0.664 | Destabilizing | 0.94 | D | 0.42 | neutral | None | None | Phosphoserine | None | I |
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.