Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23429 | 70510;70511;70512 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| N2AB | 21788 | 65587;65588;65589 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| N2A | 20861 | 62806;62807;62808 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| N2B | 14364 | 43315;43316;43317 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| Novex-1 | 14489 | 43690;43691;43692 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| Novex-2 | 14556 | 43891;43892;43893 | chr2:178575847;178575846;178575845 | chr2:179440574;179440573;179440572 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 0.994 | D | 0.826 | 0.388 | 0.772142110047 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/Y | None | None | 0.998 | D | 0.821 | 0.448 | 0.758381520966 | gnomAD-4.0.0 | 2.73717E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59831E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4015 | ambiguous | 0.3961 | ambiguous | -1.113 | Destabilizing | 0.938 | D | 0.663 | neutral | None | None | None | None | N |
| N/C | 0.4173 | ambiguous | 0.4225 | ambiguous | -0.191 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/D | 0.6145 | likely_pathogenic | 0.5338 | ambiguous | -0.511 | Destabilizing | 0.958 | D | 0.517 | neutral | N | 0.498618897 | None | None | N |
| N/E | 0.8822 | likely_pathogenic | 0.8463 | pathogenic | -0.392 | Destabilizing | 0.938 | D | 0.529 | neutral | None | None | None | None | N |
| N/F | 0.7511 | likely_pathogenic | 0.7525 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| N/G | 0.5694 | likely_pathogenic | 0.5564 | ambiguous | -1.466 | Destabilizing | 0.968 | D | 0.491 | neutral | None | None | None | None | N |
| N/H | 0.2231 | likely_benign | 0.2052 | benign | -1.04 | Destabilizing | 0.994 | D | 0.744 | deleterious | N | 0.504526149 | None | None | N |
| N/I | 0.3255 | likely_benign | 0.3208 | benign | -0.2 | Destabilizing | 0.994 | D | 0.826 | deleterious | D | 0.534155622 | None | None | N |
| N/K | 0.8536 | likely_pathogenic | 0.8224 | pathogenic | -0.235 | Destabilizing | 0.154 | N | 0.373 | neutral | N | 0.479723705 | None | None | N |
| N/L | 0.3456 | ambiguous | 0.34 | ambiguous | -0.2 | Destabilizing | 0.991 | D | 0.762 | deleterious | None | None | None | None | N |
| N/M | 0.4062 | ambiguous | 0.4024 | ambiguous | 0.209 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/P | 0.8228 | likely_pathogenic | 0.787 | pathogenic | -0.475 | Destabilizing | 0.995 | D | 0.803 | deleterious | None | None | None | None | N |
| N/Q | 0.6999 | likely_pathogenic | 0.6662 | pathogenic | -0.848 | Destabilizing | 0.991 | D | 0.749 | deleterious | None | None | None | None | N |
| N/R | 0.8273 | likely_pathogenic | 0.8079 | pathogenic | -0.252 | Destabilizing | 0.982 | D | 0.655 | neutral | None | None | None | None | N |
| N/S | 0.117 | likely_benign | 0.1156 | benign | -0.987 | Destabilizing | 0.958 | D | 0.489 | neutral | N | 0.484686807 | None | None | N |
| N/T | 0.1885 | likely_benign | 0.1711 | benign | -0.663 | Destabilizing | 0.958 | D | 0.57 | neutral | N | 0.472816375 | None | None | N |
| N/V | 0.3145 | likely_benign | 0.3167 | benign | -0.475 | Destabilizing | 0.991 | D | 0.791 | deleterious | None | None | None | None | N |
| N/W | 0.9106 | likely_pathogenic | 0.9015 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/Y | 0.3715 | ambiguous | 0.3567 | ambiguous | -0.279 | Destabilizing | 0.998 | D | 0.821 | deleterious | D | 0.534502339 | 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.