Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8550 | 25873;25874;25875 | chr2:178715766;178715765;178715764 | chr2:179580493;179580492;179580491 |
| N2AB | 8233 | 24922;24923;24924 | chr2:178715766;178715765;178715764 | chr2:179580493;179580492;179580491 |
| N2A | 7306 | 22141;22142;22143 | chr2:178715766;178715765;178715764 | chr2:179580493;179580492;179580491 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs371161599  |
-0.088 | 0.954 | N | 0.387 | 0.513 | None | gnomAD-2.1.1 | 1.55E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.68E-05 | 0 |
| R/G | rs371161599 |
-0.088 | 0.954 | N | 0.387 | 0.513 | None | gnomAD-4.0.0 | 5.61101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.32605E-06 | 0 | 0 |
| R/M | None | None | 0.989 | N | 0.385 | 0.367 | 0.542053899377 | gnomAD-4.0.0 | 7.01471E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.22178E-05 | 0 |
| R/S | rs2077385819 |
None | 0.911 | N | 0.371 | 0.367 | 0.299086750705 | gnomAD-4.0.0 | 8.40998E-06 | None | None | None | None | N | None | 0 | 5.15889E-05 | None | 0 | 0 | None | 0 | 0 | 9.0601E-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 | 0.5313 | ambiguous | 0.5364 | ambiguous | -0.134 | Destabilizing | 0.849 | D | 0.32 | neutral | None | None | None | None | N |
| R/C | 0.286 | likely_benign | 0.2938 | benign | -0.4 | Destabilizing | 0.999 | D | 0.347 | neutral | None | None | None | None | N |
| R/D | 0.8449 | likely_pathogenic | 0.8351 | pathogenic | -0.036 | Destabilizing | 0.872 | D | 0.361 | neutral | None | None | None | None | N |
| R/E | 0.5758 | likely_pathogenic | 0.5605 | ambiguous | 0.062 | Stabilizing | 0.022 | N | 0.163 | neutral | None | None | None | None | N |
| R/F | 0.6392 | likely_pathogenic | 0.6459 | pathogenic | -0.221 | Destabilizing | 0.905 | D | 0.361 | neutral | None | None | None | None | N |
| R/G | 0.423 | ambiguous | 0.4268 | ambiguous | -0.368 | Destabilizing | 0.954 | D | 0.387 | neutral | N | 0.512319414 | None | None | N |
| R/H | 0.1235 | likely_benign | 0.1218 | benign | -0.788 | Destabilizing | 0.976 | D | 0.421 | neutral | None | None | None | None | N |
| R/I | 0.3382 | likely_benign | 0.3434 | ambiguous | 0.459 | Stabilizing | 0.976 | D | 0.381 | neutral | None | None | None | None | N |
| R/K | 0.1103 | likely_benign | 0.1119 | benign | -0.204 | Destabilizing | 0.336 | N | 0.299 | neutral | N | 0.437087648 | None | None | N |
| R/L | 0.3297 | likely_benign | 0.3346 | benign | 0.459 | Stabilizing | 0.849 | D | 0.379 | neutral | None | None | None | None | N |
| R/M | 0.3867 | ambiguous | 0.3997 | ambiguous | -0.109 | Destabilizing | 0.989 | D | 0.385 | neutral | N | 0.497595747 | None | None | N |
| R/N | 0.691 | likely_pathogenic | 0.6942 | pathogenic | -0.087 | Destabilizing | 0.965 | D | 0.376 | neutral | None | None | None | None | N |
| R/P | 0.9357 | likely_pathogenic | 0.9268 | pathogenic | 0.283 | Stabilizing | 0.997 | D | 0.376 | neutral | None | None | None | None | N |
| R/Q | 0.1388 | likely_benign | 0.1399 | benign | -0.124 | Destabilizing | 0.909 | D | 0.335 | neutral | None | None | None | None | N |
| R/S | 0.5712 | likely_pathogenic | 0.5771 | pathogenic | -0.505 | Destabilizing | 0.911 | D | 0.371 | neutral | N | 0.47045086 | None | None | N |
| R/T | 0.3293 | likely_benign | 0.3334 | benign | -0.25 | Destabilizing | 0.954 | D | 0.379 | neutral | N | 0.467199911 | None | None | N |
| R/V | 0.3957 | ambiguous | 0.3932 | ambiguous | 0.283 | Stabilizing | 0.803 | D | 0.39 | neutral | None | None | None | None | N |
| R/W | 0.2517 | likely_benign | 0.2489 | benign | -0.209 | Destabilizing | 0.999 | D | 0.345 | neutral | N | 0.506750007 | None | None | N |
| R/Y | 0.4969 | ambiguous | 0.4969 | ambiguous | 0.177 | Stabilizing | 0.068 | N | 0.287 | 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.