Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14758 | 44497;44498;44499 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| N2AB | 13117 | 39574;39575;39576 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| N2A | 12190 | 36793;36794;36795 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| N2B | 5693 | 17302;17303;17304 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| Novex-1 | 5818 | 17677;17678;17679 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| Novex-2 | 5885 | 17878;17879;17880 | chr2:178630250;178630249;178630248 | chr2:179494977;179494976;179494975 |
| 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/G | None | None | 0.753 | N | 0.562 | 0.205 | 0.220303561663 | gnomAD-4.0.0 | 1.36911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79958E-06 | 0 | 0 |
| R/P | None | None | 0.956 | N | 0.777 | 0.245 | 0.257786959452 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79957E-06 | 0 | 0 |
| R/Q | rs770389312  |
0.052 | 0.922 | N | 0.536 | 0.145 | 0.119812018005 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 5.67E-05 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 3.91E-05 | 1.40331E-04 |
| R/Q | rs770389312 |
0.052 | 0.922 | N | 0.536 | 0.145 | 0.119812018005 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| R/Q | rs770389312 |
0.052 | 0.922 | N | 0.536 | 0.145 | 0.119812018005 | gnomAD-4.0.0 | 5.0841E-05 | None | None | None | None | N | None | 0 | 6.67312E-05 | None | 6.76178E-05 | 0 | None | 0 | 0 | 5.68099E-05 | 6.59413E-05 | 4.80646E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5795 | likely_pathogenic | 0.7495 | pathogenic | -0.332 | Destabilizing | 0.444 | N | 0.551 | neutral | None | None | None | None | N |
| R/C | 0.2385 | likely_benign | 0.416 | ambiguous | -0.393 | Destabilizing | 0.992 | D | 0.787 | deleterious | None | None | None | None | N |
| R/D | 0.8542 | likely_pathogenic | 0.9239 | pathogenic | 0.089 | Stabilizing | 0.848 | D | 0.616 | neutral | None | None | None | None | N |
| R/E | 0.5293 | ambiguous | 0.6888 | pathogenic | 0.218 | Stabilizing | 0.444 | N | 0.469 | neutral | None | None | None | None | N |
| R/F | 0.6479 | likely_pathogenic | 0.772 | pathogenic | -0.137 | Destabilizing | 0.972 | D | 0.751 | deleterious | None | None | None | None | N |
| R/G | 0.5303 | ambiguous | 0.7234 | pathogenic | -0.64 | Destabilizing | 0.753 | D | 0.562 | neutral | N | 0.447175988 | None | None | N |
| R/H | 0.1194 | likely_benign | 0.1802 | benign | -1.006 | Destabilizing | 0.919 | D | 0.527 | neutral | None | None | None | None | N |
| R/I | 0.2896 | likely_benign | 0.4368 | ambiguous | 0.482 | Stabilizing | 0.919 | D | 0.785 | deleterious | None | None | None | None | N |
| R/K | 0.1326 | likely_benign | 0.1787 | benign | -0.385 | Destabilizing | 0.002 | N | 0.157 | neutral | None | None | None | None | N |
| R/L | 0.308 | likely_benign | 0.4342 | ambiguous | 0.482 | Stabilizing | 0.753 | D | 0.562 | neutral | N | 0.431224807 | None | None | N |
| R/M | 0.3252 | likely_benign | 0.5065 | ambiguous | -0.055 | Destabilizing | 0.992 | D | 0.585 | neutral | None | None | None | None | N |
| R/N | 0.7409 | likely_pathogenic | 0.8532 | pathogenic | -0.037 | Destabilizing | 0.848 | D | 0.508 | neutral | None | None | None | None | N |
| R/P | 0.9589 | likely_pathogenic | 0.9775 | pathogenic | 0.233 | Stabilizing | 0.956 | D | 0.777 | deleterious | N | 0.447175988 | None | None | N |
| R/Q | 0.1384 | likely_benign | 0.2116 | benign | -0.096 | Destabilizing | 0.922 | D | 0.536 | neutral | N | 0.428183955 | None | None | N |
| R/S | 0.659 | likely_pathogenic | 0.8059 | pathogenic | -0.623 | Destabilizing | 0.444 | N | 0.585 | neutral | None | None | None | None | N |
| R/T | 0.2999 | likely_benign | 0.4805 | ambiguous | -0.313 | Destabilizing | 0.615 | D | 0.58 | neutral | None | None | None | None | N |
| R/V | 0.4056 | ambiguous | 0.5418 | ambiguous | 0.233 | Stabilizing | 0.848 | D | 0.725 | deleterious | None | None | None | None | N |
| R/W | 0.2066 | likely_benign | 0.3159 | benign | 0.071 | Stabilizing | 0.992 | D | 0.782 | deleterious | None | None | None | None | N |
| R/Y | 0.5132 | ambiguous | 0.649 | pathogenic | 0.391 | Stabilizing | 0.972 | D | 0.773 | deleterious | 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.