Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16008 | 48247;48248;48249 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| N2AB | 14367 | 43324;43325;43326 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| N2A | 13440 | 40543;40544;40545 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| N2B | 6943 | 21052;21053;21054 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| Novex-1 | 7068 | 21427;21428;21429 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| Novex-2 | 7135 | 21628;21629;21630 | chr2:178616867;178616866;178616865 | chr2:179481594;179481593;179481592 |
| 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/Q | rs771224957  |
-0.376 | 1.0 | D | 0.671 | 0.376 | 0.223146558224 | gnomAD-2.1.1 | 4.85E-05 | None | None | None | None | N | None | 0 | 1.45307E-04 | None | 0 | 1.68558E-04 | None | 0 | None | 0 | 2.69E-05 | 1.66389E-04 |
| R/Q | rs771224957 |
-0.376 | 1.0 | D | 0.671 | 0.376 | 0.223146558224 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs771224957 |
-0.376 | 1.0 | D | 0.671 | 0.376 | 0.223146558224 | gnomAD-4.0.0 | 2.4806E-05 | None | None | None | None | N | None | 4.01112E-05 | 1.33592E-04 | None | 0 | 2.23724E-05 | None | 1.5626E-05 | 0 | 2.20495E-05 | 0 | 1.60287E-05 |
| R/W | rs374233884 |
-0.518 | 1.0 | D | 0.667 | 0.432 | 0.465891899173 | gnomAD-2.1.1 | 4.85E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 2.61472E-04 | None | 4.64E-05 | 1.79E-05 | 0 |
| R/W | rs374233884 |
-0.518 | 1.0 | D | 0.667 | 0.432 | 0.465891899173 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| R/W | rs374233884 |
-0.518 | 1.0 | D | 0.667 | 0.432 | 0.465891899173 | gnomAD-4.0.0 | 2.72881E-05 | None | None | None | None | N | None | 1.33761E-05 | 0 | None | 0 | 2.23804E-05 | None | 0 | 0 | 1.61134E-05 | 2.52597E-04 | 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 | 0.8374 | likely_pathogenic | 0.8296 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| R/C | 0.541 | ambiguous | 0.5275 | ambiguous | -0.636 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| R/D | 0.8484 | likely_pathogenic | 0.85 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| R/E | 0.736 | likely_pathogenic | 0.7334 | pathogenic | 0.163 | Stabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | N |
| R/F | 0.9215 | likely_pathogenic | 0.9213 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| R/G | 0.7068 | likely_pathogenic | 0.6793 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.593445009 | None | None | N |
| R/H | 0.2842 | likely_benign | 0.2837 | benign | -1.22 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/I | 0.7375 | likely_pathogenic | 0.7349 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| R/K | 0.2811 | likely_benign | 0.2857 | benign | -0.601 | Destabilizing | 0.998 | D | 0.488 | neutral | None | None | None | None | N |
| R/L | 0.7088 | likely_pathogenic | 0.6924 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.632 | neutral | D | 0.594703581 | None | None | N |
| R/M | 0.7864 | likely_pathogenic | 0.7648 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| R/N | 0.8156 | likely_pathogenic | 0.8191 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| R/P | 0.9429 | likely_pathogenic | 0.9359 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.636207137 | None | None | N |
| R/Q | 0.2988 | likely_benign | 0.2929 | benign | -0.309 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.635149368 | None | None | N |
| R/S | 0.8686 | likely_pathogenic | 0.8643 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/T | 0.6799 | likely_pathogenic | 0.6626 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/V | 0.8154 | likely_pathogenic | 0.8157 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| R/W | 0.6005 | likely_pathogenic | 0.5672 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.636930799 | None | None | N |
| R/Y | 0.8197 | likely_pathogenic | 0.822 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.634 | 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.