Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17948 | 54067;54068;54069 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| N2AB | 16307 | 49144;49145;49146 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| N2A | 15380 | 46363;46364;46365 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| N2B | 8883 | 26872;26873;26874 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| Novex-1 | 9008 | 27247;27248;27249 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| Novex-2 | 9075 | 27448;27449;27450 | chr2:178605453;178605452;178605451 | chr2:179470180;179470179;179470178 |
| 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 | None | None | 1.0 | N | 0.831 | 0.521 | 0.620317764101 | gnomAD-4.0.0 | 6.8575E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01018E-07 | 0 | 0 |
| P/Q | rs781513071  |
-1.037 | 1.0 | N | 0.796 | 0.53 | 0.463328977263 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| P/Q | rs781513071 |
-1.037 | 1.0 | N | 0.796 | 0.53 | 0.463328977263 | gnomAD-4.0.0 | 2.743E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73974E-04 | 2.70305E-06 | 0 | 0 |
| P/T | rs2054560822 |
None | 1.0 | N | 0.755 | 0.513 | 0.476986058749 | gnomAD-4.0.0 | 2.74208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60319E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1777 | likely_benign | 0.1462 | benign | -1.388 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.501874554 | None | None | N |
| P/C | 0.8385 | likely_pathogenic | 0.7873 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/D | 0.9202 | likely_pathogenic | 0.8809 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/E | 0.8701 | likely_pathogenic | 0.7958 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/F | 0.8112 | likely_pathogenic | 0.7278 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/G | 0.7746 | likely_pathogenic | 0.6902 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/H | 0.7359 | likely_pathogenic | 0.6502 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/I | 0.7934 | likely_pathogenic | 0.6853 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/K | 0.9489 | likely_pathogenic | 0.9109 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| P/L | 0.6153 | likely_pathogenic | 0.4886 | ambiguous | -0.913 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.500914569 | None | None | N |
| P/M | 0.795 | likely_pathogenic | 0.701 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.8918 | likely_pathogenic | 0.8405 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/Q | 0.8119 | likely_pathogenic | 0.716 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.514298791 | None | None | N |
| P/R | 0.8952 | likely_pathogenic | 0.8264 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.485812509 | None | None | N |
| P/S | 0.4933 | ambiguous | 0.4073 | ambiguous | -1.229 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.483824272 | None | None | N |
| P/T | 0.552 | ambiguous | 0.4444 | ambiguous | -1.201 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.507461936 | None | None | N |
| P/V | 0.6259 | likely_pathogenic | 0.5205 | ambiguous | -1.038 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/W | 0.8858 | likely_pathogenic | 0.8323 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/Y | 0.8157 | likely_pathogenic | 0.7231 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.861 | 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.