Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20213 | 60862;60863;60864 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| N2AB | 18572 | 55939;55940;55941 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| N2A | 17645 | 53158;53159;53160 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| N2B | 11148 | 33667;33668;33669 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| Novex-1 | 11273 | 34042;34043;34044 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| Novex-2 | 11340 | 34243;34244;34245 | chr2:178591088;178591087;178591086 | chr2:179455815;179455814;179455813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1186567480  |
-1.206 | 0.549 | N | 0.423 | 0.252 | 0.277317399466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1186567480 |
-1.206 | 0.549 | N | 0.423 | 0.252 | 0.277317399466 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 2.28812E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5293 | ambiguous | 0.4918 | ambiguous | -0.64 | Destabilizing | 0.201 | N | 0.427 | neutral | N | 0.516556004 | None | None | N |
| D/C | 0.8115 | likely_pathogenic | 0.7844 | pathogenic | -0.452 | Destabilizing | 0.992 | D | 0.571 | neutral | None | None | None | None | N |
| D/E | 0.3493 | ambiguous | 0.3171 | benign | -0.915 | Destabilizing | 0.001 | N | 0.113 | neutral | N | 0.442018173 | None | None | N |
| D/F | 0.9151 | likely_pathogenic | 0.9014 | pathogenic | -0.443 | Destabilizing | 0.972 | D | 0.569 | neutral | None | None | None | None | N |
| D/G | 0.622 | likely_pathogenic | 0.6123 | pathogenic | -0.999 | Destabilizing | 0.549 | D | 0.374 | neutral | N | 0.481991075 | None | None | N |
| D/H | 0.7061 | likely_pathogenic | 0.6728 | pathogenic | -0.899 | Destabilizing | 0.896 | D | 0.478 | neutral | N | 0.49334738 | None | None | N |
| D/I | 0.7445 | likely_pathogenic | 0.6949 | pathogenic | 0.315 | Stabilizing | 0.92 | D | 0.568 | neutral | None | None | None | None | N |
| D/K | 0.8299 | likely_pathogenic | 0.8017 | pathogenic | -0.911 | Destabilizing | 0.25 | N | 0.389 | neutral | None | None | None | None | N |
| D/L | 0.7391 | likely_pathogenic | 0.6736 | pathogenic | 0.315 | Stabilizing | 0.617 | D | 0.469 | neutral | None | None | None | None | N |
| D/M | 0.8779 | likely_pathogenic | 0.8525 | pathogenic | 0.84 | Stabilizing | 0.977 | D | 0.542 | neutral | None | None | None | None | N |
| D/N | 0.2679 | likely_benign | 0.2274 | benign | -1.201 | Destabilizing | 0.549 | D | 0.423 | neutral | N | 0.469620811 | None | None | N |
| D/P | 0.896 | likely_pathogenic | 0.8591 | pathogenic | 0.021 | Stabilizing | 0.766 | D | 0.408 | neutral | None | None | None | None | N |
| D/Q | 0.7412 | likely_pathogenic | 0.7097 | pathogenic | -1.042 | Destabilizing | 0.021 | N | 0.209 | neutral | None | None | None | None | N |
| D/R | 0.8659 | likely_pathogenic | 0.8454 | pathogenic | -0.799 | Destabilizing | 0.447 | N | 0.444 | neutral | None | None | None | None | N |
| D/S | 0.4518 | ambiguous | 0.4013 | ambiguous | -1.535 | Destabilizing | 0.25 | N | 0.412 | neutral | None | None | None | None | N |
| D/T | 0.723 | likely_pathogenic | 0.6851 | pathogenic | -1.244 | Destabilizing | 0.617 | D | 0.359 | neutral | None | None | None | None | N |
| D/V | 0.5296 | ambiguous | 0.502 | ambiguous | 0.021 | Stabilizing | 0.549 | D | 0.473 | neutral | N | 0.489726529 | None | None | N |
| D/W | 0.9749 | likely_pathogenic | 0.973 | pathogenic | -0.406 | Destabilizing | 0.992 | D | 0.624 | neutral | None | None | None | None | N |
| D/Y | 0.5533 | ambiguous | 0.5113 | ambiguous | -0.267 | Destabilizing | 0.963 | D | 0.582 | neutral | N | 0.517238533 | 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.