Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2575 | 7948;7949;7950 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| N2AB | 2575 | 7948;7949;7950 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| N2A | 2575 | 7948;7949;7950 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| N2B | 2529 | 7810;7811;7812 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| Novex-1 | 2529 | 7810;7811;7812 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| Novex-2 | 2529 | 7810;7811;7812 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
| Novex-3 | 2575 | 7948;7949;7950 | chr2:178773241;178773240;178773239 | chr2:179637968;179637967;179637966 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1469009599  |
-0.387 | 0.78 | N | 0.336 | 0.185 | 0.282575091529 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.42674E-04 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1469009599 |
-0.387 | 0.78 | N | 0.336 | 0.185 | 0.282575091529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs1469009599 |
-0.387 | 0.78 | N | 0.336 | 0.185 | 0.282575091529 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | None | None | None | N | 0.129 | 0.093 | 0.104622674875 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85695E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1687 | likely_benign | 0.1856 | benign | -0.333 | Destabilizing | 0.016 | N | 0.269 | neutral | None | None | None | None | N |
| S/C | 0.1743 | likely_benign | 0.1792 | benign | -0.378 | Destabilizing | 0.78 | D | 0.336 | neutral | N | 0.49542896 | None | None | N |
| S/D | 0.413 | ambiguous | 0.3888 | ambiguous | 0.521 | Stabilizing | 0.001 | N | 0.175 | neutral | None | None | None | None | N |
| S/E | 0.8133 | likely_pathogenic | 0.7902 | pathogenic | 0.455 | Stabilizing | 0.081 | N | 0.292 | neutral | None | None | None | None | N |
| S/F | 0.6087 | likely_pathogenic | 0.5926 | pathogenic | -0.957 | Destabilizing | 0.555 | D | 0.43 | neutral | None | None | None | None | N |
| S/G | 0.0806 | likely_benign | 0.0864 | benign | -0.449 | Destabilizing | None | N | 0.129 | neutral | N | 0.41021499299999997 | None | None | N |
| S/H | 0.6192 | likely_pathogenic | 0.6057 | pathogenic | -0.82 | Destabilizing | 0.791 | D | 0.327 | neutral | None | None | None | None | N |
| S/I | 0.5135 | ambiguous | 0.4865 | ambiguous | -0.157 | Destabilizing | 0.188 | N | 0.47 | neutral | D | 0.558898153 | None | None | N |
| S/K | 0.931 | likely_pathogenic | 0.9143 | pathogenic | -0.268 | Destabilizing | 0.149 | N | 0.287 | neutral | None | None | None | None | N |
| S/L | 0.3033 | likely_benign | 0.2955 | benign | -0.157 | Destabilizing | 0.081 | N | 0.465 | neutral | None | None | None | None | N |
| S/M | 0.4895 | ambiguous | 0.471 | ambiguous | -0.202 | Destabilizing | 0.824 | D | 0.324 | neutral | None | None | None | None | N |
| S/N | 0.2143 | likely_benign | 0.1972 | benign | -0.17 | Destabilizing | 0.117 | N | 0.318 | neutral | N | 0.455915357 | None | None | N |
| S/P | 0.9109 | likely_pathogenic | 0.896 | pathogenic | -0.186 | Destabilizing | 0.555 | D | 0.407 | neutral | None | None | None | None | N |
| S/Q | 0.8308 | likely_pathogenic | 0.8165 | pathogenic | -0.285 | Destabilizing | 0.555 | D | 0.363 | neutral | None | None | None | None | N |
| S/R | 0.8993 | likely_pathogenic | 0.8819 | pathogenic | -0.146 | Destabilizing | 0.317 | N | 0.407 | neutral | D | 0.556866844 | None | None | N |
| S/T | 0.1242 | likely_benign | 0.1164 | benign | -0.248 | Destabilizing | None | N | 0.222 | neutral | N | 0.461249122 | None | None | N |
| S/V | 0.4854 | ambiguous | 0.478 | ambiguous | -0.186 | Destabilizing | 0.081 | N | 0.461 | neutral | None | None | None | None | N |
| S/W | 0.7937 | likely_pathogenic | 0.7929 | pathogenic | -1.019 | Destabilizing | 0.935 | D | 0.469 | neutral | None | None | None | None | N |
| S/Y | 0.548 | ambiguous | 0.5289 | ambiguous | -0.69 | Destabilizing | 0.555 | D | 0.417 | 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.