Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23164 | 69715;69716;69717 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| N2AB | 21523 | 64792;64793;64794 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| N2A | 20596 | 62011;62012;62013 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| N2B | 14099 | 42520;42521;42522 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| Novex-1 | 14224 | 42895;42896;42897 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| Novex-2 | 14291 | 43096;43097;43098 | chr2:178576754;178576753;178576752 | chr2:179441481;179441480;179441479 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | N | 0.049 | 0.133 | 0.0666544352282 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-06 | 0 | 0 |
| V/L | rs755341733  |
0.038 | 0.002 | N | 0.087 | 0.111 | 0.0716867268079 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/L | rs755341733 |
0.038 | 0.002 | N | 0.087 | 0.111 | 0.0716867268079 | gnomAD-4.0.0 | 2.05292E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69871E-06 | 0 | 0 |
| V/M | rs755341733 |
-0.247 | 0.171 | N | 0.286 | 0.098 | 0.0920862733494 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/M | rs755341733 |
-0.247 | 0.171 | N | 0.286 | 0.098 | 0.0920862733494 | gnomAD-4.0.0 | 2.73723E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69871E-06 | 1.15955E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0641 | likely_benign | 0.064 | benign | -0.322 | Destabilizing | None | N | 0.049 | neutral | N | 0.385530172 | None | None | I |
| V/C | 0.424 | ambiguous | 0.4476 | ambiguous | -0.732 | Destabilizing | 0.356 | N | 0.315 | neutral | None | None | None | None | I |
| V/D | 0.1499 | likely_benign | 0.1602 | benign | -0.523 | Destabilizing | 0.072 | N | 0.416 | neutral | None | None | None | None | I |
| V/E | 0.1249 | likely_benign | 0.1352 | benign | -0.647 | Destabilizing | 0.055 | N | 0.384 | neutral | N | 0.376929332 | None | None | I |
| V/F | 0.1248 | likely_benign | 0.1281 | benign | -0.748 | Destabilizing | 0.214 | N | 0.399 | neutral | None | None | None | None | I |
| V/G | 0.0907 | likely_benign | 0.0919 | benign | -0.375 | Destabilizing | 0.012 | N | 0.356 | neutral | N | 0.476960253 | None | None | I |
| V/H | 0.247 | likely_benign | 0.2568 | benign | -0.013 | Destabilizing | 0.628 | D | 0.318 | neutral | None | None | None | None | I |
| V/I | 0.0694 | likely_benign | 0.0696 | benign | -0.327 | Destabilizing | None | N | 0.081 | neutral | None | None | None | None | I |
| V/K | 0.1053 | likely_benign | 0.1117 | benign | -0.414 | Destabilizing | 0.072 | N | 0.412 | neutral | None | None | None | None | I |
| V/L | 0.085 | likely_benign | 0.0907 | benign | -0.327 | Destabilizing | 0.002 | N | 0.087 | neutral | N | 0.428859662 | None | None | I |
| V/M | 0.0821 | likely_benign | 0.0862 | benign | -0.56 | Destabilizing | 0.171 | N | 0.286 | neutral | N | 0.487003889 | None | None | I |
| V/N | 0.1145 | likely_benign | 0.1169 | benign | -0.176 | Destabilizing | 0.072 | N | 0.435 | neutral | None | None | None | None | I |
| V/P | 0.1978 | likely_benign | 0.1921 | benign | -0.298 | Destabilizing | 0.072 | N | 0.419 | neutral | None | None | None | None | I |
| V/Q | 0.1259 | likely_benign | 0.1357 | benign | -0.416 | Destabilizing | 0.356 | N | 0.407 | neutral | None | None | None | None | I |
| V/R | 0.0996 | likely_benign | 0.1134 | benign | 0.057 | Stabilizing | 0.072 | N | 0.443 | neutral | None | None | None | None | I |
| V/S | 0.0804 | likely_benign | 0.0823 | benign | -0.439 | Destabilizing | 0.001 | N | 0.15 | neutral | None | None | None | None | I |
| V/T | 0.0785 | likely_benign | 0.0777 | benign | -0.477 | Destabilizing | None | N | 0.05 | neutral | None | None | None | None | I |
| V/W | 0.5191 | ambiguous | 0.5396 | ambiguous | -0.806 | Destabilizing | 0.864 | D | 0.311 | neutral | None | None | None | None | I |
| V/Y | 0.3122 | likely_benign | 0.3227 | benign | -0.529 | Destabilizing | 0.356 | N | 0.349 | neutral | None | None | None | 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.