Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19946 | 60061;60062;60063 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| N2AB | 18305 | 55138;55139;55140 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| N2A | 17378 | 52357;52358;52359 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| N2B | 10881 | 32866;32867;32868 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| Novex-1 | 11006 | 33241;33242;33243 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| Novex-2 | 11073 | 33442;33443;33444 | chr2:178592068;178592067;178592066 | chr2:179456795;179456794;179456793 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.679 | N | 0.347 | 0.237 | 0.17948927462 | gnomAD-4.0.0 | 6.84517E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs758522183  |
-0.414 | 0.679 | N | 0.4 | 0.233 | 0.177238962908 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.6166E-04 | None | 0 | 0 | 0 |
| Q/K | rs758522183 |
-0.414 | 0.679 | N | 0.4 | 0.233 | 0.177238962908 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Q/K | rs758522183 |
-0.414 | 0.679 | N | 0.4 | 0.233 | 0.177238962908 | gnomAD-4.0.0 | 1.36397E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.41625E-04 | 0 |
| Q/R | rs750885374 |
-0.539 | 0.912 | N | 0.381 | 0.245 | 0.195762928549 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61643E-04 | None | 0 | 0 | 0 |
| Q/R | rs750885374 |
-0.539 | 0.912 | N | 0.381 | 0.245 | 0.195762928549 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| Q/R | rs750885374 |
-0.539 | 0.912 | N | 0.381 | 0.245 | 0.195762928549 | gnomAD-4.0.0 | 1.36393E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.41604E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2038 | likely_benign | 0.1831 | benign | -0.775 | Destabilizing | 0.037 | N | 0.239 | neutral | None | None | None | None | N |
| Q/C | 0.6146 | likely_pathogenic | 0.6005 | pathogenic | -0.116 | Destabilizing | 0.021 | N | 0.401 | neutral | None | None | None | None | N |
| Q/D | 0.4113 | ambiguous | 0.4112 | ambiguous | -0.933 | Destabilizing | 0.872 | D | 0.361 | neutral | None | None | None | None | N |
| Q/E | 0.0856 | likely_benign | 0.0847 | benign | -0.777 | Destabilizing | 0.679 | D | 0.347 | neutral | N | 0.402673138 | None | None | N |
| Q/F | 0.6846 | likely_pathogenic | 0.6607 | pathogenic | -0.27 | Destabilizing | 0.993 | D | 0.526 | neutral | None | None | None | None | N |
| Q/G | 0.3568 | ambiguous | 0.3494 | ambiguous | -1.186 | Destabilizing | 0.737 | D | 0.372 | neutral | None | None | None | None | N |
| Q/H | 0.2456 | likely_benign | 0.2255 | benign | -0.978 | Destabilizing | 0.991 | D | 0.495 | neutral | N | 0.48338758 | None | None | N |
| Q/I | 0.3326 | likely_benign | 0.2873 | benign | 0.308 | Stabilizing | 0.932 | D | 0.53 | neutral | None | None | None | None | N |
| Q/K | 0.1502 | likely_benign | 0.1567 | benign | -0.516 | Destabilizing | 0.679 | D | 0.4 | neutral | N | 0.456968983 | None | None | N |
| Q/L | 0.1482 | likely_benign | 0.1295 | benign | 0.308 | Stabilizing | 0.679 | D | 0.407 | neutral | N | 0.484753017 | None | None | N |
| Q/M | 0.3169 | likely_benign | 0.2872 | benign | 0.718 | Stabilizing | 0.993 | D | 0.495 | neutral | None | None | None | None | N |
| Q/N | 0.2907 | likely_benign | 0.278 | benign | -1.13 | Destabilizing | 0.872 | D | 0.369 | neutral | None | None | None | None | N |
| Q/P | 0.229 | likely_benign | 0.2031 | benign | -0.023 | Destabilizing | 0.912 | D | 0.527 | neutral | N | 0.49579673 | None | None | N |
| Q/R | 0.1631 | likely_benign | 0.1666 | benign | -0.54 | Destabilizing | 0.912 | D | 0.381 | neutral | N | 0.470842357 | None | None | N |
| Q/S | 0.2061 | likely_benign | 0.1902 | benign | -1.277 | Destabilizing | 0.1 | N | 0.161 | neutral | None | None | None | None | N |
| Q/T | 0.1583 | likely_benign | 0.1367 | benign | -0.924 | Destabilizing | 0.584 | D | 0.391 | neutral | None | None | None | None | N |
| Q/V | 0.2064 | likely_benign | 0.1709 | benign | -0.023 | Destabilizing | 0.872 | D | 0.457 | neutral | None | None | None | None | N |
| Q/W | 0.5804 | likely_pathogenic | 0.6066 | pathogenic | -0.196 | Destabilizing | 0.998 | D | 0.535 | neutral | None | None | None | None | N |
| Q/Y | 0.427 | ambiguous | 0.4237 | ambiguous | 0.056 | Stabilizing | 0.993 | D | 0.55 | 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.