Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21602 | 65029;65030;65031 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| N2AB | 19961 | 60106;60107;60108 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| N2A | 19034 | 57325;57326;57327 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| N2B | 12537 | 37834;37835;37836 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| Novex-1 | 12662 | 38209;38210;38211 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| Novex-2 | 12729 | 38410;38411;38412 | chr2:178584837;178584836;178584835 | chr2:179449564;179449563;179449562 |
| 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/I | None | None | 0.4 | N | 0.247 | 0.204 | 0.377097596864 | gnomAD-4.0.0 | 6.84345E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99628E-07 | 0 | 0 |
| V/L | rs2048571659  |
None | 0.911 | N | 0.467 | 0.232 | 0.368743488249 | gnomAD-4.0.0 | 4.10606E-06 | None | None | None | None | N | None | 2.98989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.28638E-05 |
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 | 0.2131 | likely_benign | 0.2301 | benign | -1.375 | Destabilizing | 0.953 | D | 0.499 | neutral | N | 0.464647104 | None | None | N |
| V/C | 0.7351 | likely_pathogenic | 0.7609 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.568 | neutral | None | None | None | None | N |
| V/D | 0.5347 | ambiguous | 0.6128 | pathogenic | -0.986 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/E | 0.4337 | ambiguous | 0.5079 | ambiguous | -1.026 | Destabilizing | 0.997 | D | 0.632 | neutral | N | 0.508475239 | None | None | N |
| V/F | 0.2612 | likely_benign | 0.2924 | benign | -1.226 | Destabilizing | 0.998 | D | 0.536 | neutral | None | None | None | None | N |
| V/G | 0.2905 | likely_benign | 0.3273 | benign | -1.643 | Destabilizing | 0.997 | D | 0.669 | neutral | N | 0.499973186 | None | None | N |
| V/H | 0.7031 | likely_pathogenic | 0.7546 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/I | 0.0793 | likely_benign | 0.0792 | benign | -0.76 | Destabilizing | 0.4 | N | 0.247 | neutral | N | 0.479155196 | None | None | N |
| V/K | 0.4824 | ambiguous | 0.5626 | ambiguous | -1.045 | Destabilizing | 0.998 | D | 0.631 | neutral | None | None | None | None | N |
| V/L | 0.2404 | likely_benign | 0.2682 | benign | -0.76 | Destabilizing | 0.911 | D | 0.467 | neutral | N | 0.487350605 | None | None | N |
| V/M | 0.1683 | likely_benign | 0.1918 | benign | -0.549 | Destabilizing | 0.998 | D | 0.554 | neutral | None | None | None | None | N |
| V/N | 0.3593 | ambiguous | 0.3998 | ambiguous | -0.807 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/P | 0.5933 | likely_pathogenic | 0.6479 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| V/Q | 0.4659 | ambiguous | 0.5404 | ambiguous | -1.034 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| V/R | 0.4497 | ambiguous | 0.5364 | ambiguous | -0.466 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| V/S | 0.2692 | likely_benign | 0.2936 | benign | -1.338 | Destabilizing | 0.991 | D | 0.574 | neutral | None | None | None | None | N |
| V/T | 0.1843 | likely_benign | 0.2044 | benign | -1.268 | Destabilizing | 0.671 | D | 0.245 | neutral | None | None | None | None | N |
| V/W | 0.8785 | likely_pathogenic | 0.916 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6512 | likely_pathogenic | 0.7053 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.546 | 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.