Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22268 | 67027;67028;67029 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| N2AB | 20627 | 62104;62105;62106 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| N2A | 19700 | 59323;59324;59325 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| N2B | 13203 | 39832;39833;39834 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| Novex-1 | 13328 | 40207;40208;40209 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| Novex-2 | 13395 | 40408;40409;40410 | chr2:178580577;178580576;178580575 | chr2:179445304;179445303;179445302 |
| 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 | rs762044819  |
-0.05 | 1.0 | N | 0.67 | 0.399 | 0.457741393631 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.33E-05 | None | 0 | 0 | 0 |
| R/G | rs762044819 |
-0.05 | 1.0 | N | 0.67 | 0.399 | 0.457741393631 | gnomAD-4.0.0 | 1.59682E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44596E-05 | 0 |
| R/K | None | None | 0.997 | N | 0.715 | 0.244 | 0.385906861911 | gnomAD-4.0.0 | 6.85231E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16787E-05 | 0 |
| R/M | None | None | 1.0 | N | 0.762 | 0.42 | 0.421799068777 | gnomAD-4.0.0 | 2.05569E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70024E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8688 | likely_pathogenic | 0.877 | pathogenic | 0.134 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| R/C | 0.5157 | ambiguous | 0.5383 | ambiguous | -0.138 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| R/D | 0.9756 | likely_pathogenic | 0.9764 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| R/E | 0.8138 | likely_pathogenic | 0.8223 | pathogenic | -0.174 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| R/F | 0.937 | likely_pathogenic | 0.937 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| R/G | 0.7521 | likely_pathogenic | 0.7609 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.520279461 | None | None | I |
| R/H | 0.3966 | ambiguous | 0.4 | ambiguous | -0.548 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| R/I | 0.7871 | likely_pathogenic | 0.8036 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| R/K | 0.2306 | likely_benign | 0.2208 | benign | -0.021 | Destabilizing | 0.997 | D | 0.715 | prob.delet. | N | 0.431753612 | None | None | I |
| R/L | 0.6639 | likely_pathogenic | 0.6863 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| R/M | 0.7165 | likely_pathogenic | 0.7374 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.762 | deleterious | N | 0.482851492 | None | None | I |
| R/N | 0.9465 | likely_pathogenic | 0.9497 | pathogenic | 0.072 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/P | 0.966 | likely_pathogenic | 0.9631 | pathogenic | 0.397 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| R/Q | 0.2546 | likely_benign | 0.2551 | benign | 0.039 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| R/S | 0.9256 | likely_pathogenic | 0.9305 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.500702257 | None | None | I |
| R/T | 0.8076 | likely_pathogenic | 0.8202 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.482851492 | None | None | I |
| R/V | 0.8347 | likely_pathogenic | 0.8398 | pathogenic | 0.397 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/W | 0.6054 | likely_pathogenic | 0.5861 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.480271052 | None | None | I |
| R/Y | 0.8524 | likely_pathogenic | 0.8551 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.763 | deleterious | 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.