Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19890 | 59893;59894;59895 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| N2AB | 18249 | 54970;54971;54972 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| N2A | 17322 | 52189;52190;52191 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| N2B | 10825 | 32698;32699;32700 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| Novex-1 | 10950 | 33073;33074;33075 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| Novex-2 | 11017 | 33274;33275;33276 | chr2:178592236;178592235;178592234 | chr2:179456963;179456962;179456961 |
| 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/T | rs751739372  |
-0.122 | 1.0 | N | 0.719 | 0.374 | 0.307332253619 | gnomAD-2.1.1 | 2.91E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.03E-05 | 4.8E-05 | 1.42816E-04 |
| R/T | rs751739372 |
-0.122 | 1.0 | N | 0.719 | 0.374 | 0.307332253619 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/T | rs751739372 |
-0.122 | 1.0 | N | 0.719 | 0.374 | 0.307332253619 | gnomAD-4.0.0 | 7.70929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.7204E-05 | 0 | 7.19597E-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 | 0.7398 | likely_pathogenic | 0.6481 | pathogenic | -0.995 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| R/C | 0.2857 | likely_benign | 0.2537 | benign | -0.945 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/D | 0.8986 | likely_pathogenic | 0.8663 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| R/E | 0.693 | likely_pathogenic | 0.6245 | pathogenic | -0.094 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| R/F | 0.825 | likely_pathogenic | 0.7886 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/G | 0.4582 | ambiguous | 0.3725 | ambiguous | -1.307 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.452157809 | None | None | N |
| R/H | 0.1706 | likely_benign | 0.1644 | benign | -1.515 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| R/I | 0.7248 | likely_pathogenic | 0.6654 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/K | 0.1366 | likely_benign | 0.1216 | benign | -1.043 | Destabilizing | 0.997 | D | 0.541 | neutral | N | 0.490601554 | None | None | N |
| R/L | 0.5142 | ambiguous | 0.4345 | ambiguous | -0.151 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/M | 0.5342 | ambiguous | 0.4678 | ambiguous | -0.382 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.470901485 | None | None | N |
| R/N | 0.7949 | likely_pathogenic | 0.7383 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/P | 0.9631 | likely_pathogenic | 0.9554 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/Q | 0.1617 | likely_benign | 0.1439 | benign | -0.668 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| R/S | 0.7227 | likely_pathogenic | 0.6403 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.447501351 | None | None | N |
| R/T | 0.3483 | ambiguous | 0.2746 | benign | -0.984 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.392877432 | None | None | N |
| R/V | 0.7255 | likely_pathogenic | 0.6558 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/W | 0.3988 | ambiguous | 0.3845 | ambiguous | -0.486 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.483830297 | None | None | N |
| R/Y | 0.6985 | likely_pathogenic | 0.6554 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.762 | 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.