Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17470 | 52633;52634;52635 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| N2AB | 15829 | 47710;47711;47712 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| N2A | 14902 | 44929;44930;44931 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| N2B | 8405 | 25438;25439;25440 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| Novex-1 | 8530 | 25813;25814;25815 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| Novex-2 | 8597 | 26014;26015;26016 | chr2:178608475;178608474;178608473 | chr2:179473202;179473201;179473200 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs372618781  |
-0.202 | 1.0 | N | 0.792 | 0.353 | 0.639847762547 | gnomAD-2.1.1 | 4.81E-06 | None | None | None | None | I | None | 0 | 3.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs372618781 |
-0.202 | 1.0 | N | 0.792 | 0.353 | 0.639847762547 | gnomAD-4.0.0 | 7.01129E-07 | None | None | None | None | I | None | 0 | 2.76319E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs372618781 |
-0.135 | 1.0 | N | 0.82 | 0.411 | 0.467501455318 | gnomAD-2.1.1 | 5.77E-05 | None | None | None | None | I | None | 7.33E-05 | 3.82E-05 | None | 0 | 2.64585E-04 | None | 2.55798E-04 | None | 0 | 0 | 0 |
| P/Q | rs372618781 |
-0.135 | 1.0 | N | 0.82 | 0.411 | 0.467501455318 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.89864E-04 | None | 0 | 0 | 0 | 4.14766E-04 | 0 |
| P/Q | rs372618781 |
-0.135 | 1.0 | N | 0.82 | 0.411 | 0.467501455318 | gnomAD-4.0.0 | 2.09105E-05 | None | None | None | None | I | None | 0 | 1.94386E-05 | None | 0 | 1.35962E-04 | None | 0 | 0 | 1.7158E-06 | 2.24295E-04 | 8.19699E-05 |
| P/T | None | None | 1.0 | N | 0.787 | 0.403 | 0.451692371253 | gnomAD-4.0.0 | 1.6867E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.16276E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1317 | likely_benign | 0.1219 | benign | -0.665 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.478323182 | None | None | I |
| P/C | 0.525 | ambiguous | 0.5422 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| P/D | 0.8465 | likely_pathogenic | 0.8617 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| P/E | 0.5019 | ambiguous | 0.5262 | ambiguous | -0.954 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/F | 0.6265 | likely_pathogenic | 0.6168 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| P/G | 0.6956 | likely_pathogenic | 0.6867 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| P/H | 0.3897 | ambiguous | 0.4155 | ambiguous | -0.427 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/I | 0.1908 | likely_benign | 0.1806 | benign | -0.475 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/K | 0.4151 | ambiguous | 0.4764 | ambiguous | -0.383 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/L | 0.1447 | likely_benign | 0.1357 | benign | -0.475 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.475275443 | None | None | I |
| P/M | 0.3339 | likely_benign | 0.3142 | benign | -0.155 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/N | 0.6574 | likely_pathogenic | 0.6589 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| P/Q | 0.2851 | likely_benign | 0.2909 | benign | -0.46 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.507573614 | None | None | I |
| P/R | 0.3512 | ambiguous | 0.3962 | ambiguous | 0.211 | Stabilizing | 1.0 | D | 0.819 | deleterious | N | 0.48368246 | None | None | I |
| P/S | 0.3042 | likely_benign | 0.3021 | benign | -0.402 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.49520335 | None | None | I |
| P/T | 0.1677 | likely_benign | 0.1642 | benign | -0.449 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.499558216 | None | None | I |
| P/V | 0.1563 | likely_benign | 0.1451 | benign | -0.505 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| P/W | 0.8665 | likely_pathogenic | 0.8721 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| P/Y | 0.6568 | likely_pathogenic | 0.6687 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.827 | 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.