Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2837 | 8734;8735;8736 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| N2AB | 2837 | 8734;8735;8736 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| N2A | 2837 | 8734;8735;8736 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| N2B | 2791 | 8596;8597;8598 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| Novex-1 | 2791 | 8596;8597;8598 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| Novex-2 | 2791 | 8596;8597;8598 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
| Novex-3 | 2837 | 8734;8735;8736 | chr2:178770192;178770191;178770190 | chr2:179634919;179634918;179634917 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs202024134  |
-0.275 | 1.0 | D | 0.435 | 0.473 | None | gnomAD-2.1.1 | 4.78E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.24E-05 | 8.8E-05 | 0 |
| S/C | rs202024134 |
-0.275 | 1.0 | D | 0.435 | 0.473 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 2.94E-05 | 0 | 0 |
| S/C | rs202024134 |
-0.275 | 1.0 | D | 0.435 | 0.473 | None | gnomAD-4.0.0 | 4.22571E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56828E-04 | 0 | 5.26175E-05 | 0 | 2.84172E-05 |
| S/G | rs202024134 |
-0.522 | 0.135 | N | 0.186 | 0.172 | 0.124217242631 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs202024134 |
-0.522 | 0.135 | N | 0.186 | 0.172 | 0.124217242631 | gnomAD-4.0.0 | 3.18094E-06 | None | None | None | None | N | None | 0 | 4.57268E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1166608062 |
None | 0.997 | D | 0.35 | 0.452 | 0.277317399466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1166608062 |
None | 0.997 | D | 0.35 | 0.452 | 0.277317399466 | gnomAD-4.0.0 | 6.19566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4744E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2064 | likely_benign | 0.2258 | benign | -0.249 | Destabilizing | 0.964 | D | 0.461 | neutral | None | None | None | None | N |
| S/C | 0.2051 | likely_benign | 0.2242 | benign | -0.193 | Destabilizing | 1.0 | D | 0.435 | neutral | D | 0.64569368 | None | None | N |
| S/D | 0.5779 | likely_pathogenic | 0.6284 | pathogenic | -0.078 | Destabilizing | 0.971 | D | 0.389 | neutral | None | None | None | None | N |
| S/E | 0.9204 | likely_pathogenic | 0.9243 | pathogenic | -0.167 | Destabilizing | 0.985 | D | 0.394 | neutral | None | None | None | None | N |
| S/F | 0.7355 | likely_pathogenic | 0.7494 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.472 | neutral | None | None | None | None | N |
| S/G | 0.0936 | likely_benign | 0.1095 | benign | -0.372 | Destabilizing | 0.135 | N | 0.186 | neutral | N | 0.449913951 | None | None | N |
| S/H | 0.7739 | likely_pathogenic | 0.8005 | pathogenic | -0.849 | Destabilizing | 0.999 | D | 0.383 | neutral | None | None | None | None | N |
| S/I | 0.7193 | likely_pathogenic | 0.7562 | pathogenic | -0.054 | Destabilizing | 0.999 | D | 0.458 | neutral | D | 0.553237361 | None | None | N |
| S/K | 0.967 | likely_pathogenic | 0.9708 | pathogenic | -0.578 | Destabilizing | 0.985 | D | 0.407 | neutral | None | None | None | None | N |
| S/L | 0.324 | likely_benign | 0.3471 | ambiguous | -0.054 | Destabilizing | 0.998 | D | 0.433 | neutral | None | None | None | None | N |
| S/M | 0.5355 | ambiguous | 0.5733 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.408 | neutral | None | None | None | None | N |
| S/N | 0.2275 | likely_benign | 0.2842 | benign | -0.247 | Destabilizing | 0.4 | N | 0.243 | neutral | N | 0.478453671 | None | None | N |
| S/P | 0.9631 | likely_pathogenic | 0.9551 | pathogenic | -0.09 | Destabilizing | 0.999 | D | 0.346 | neutral | None | None | None | None | N |
| S/Q | 0.9087 | likely_pathogenic | 0.9161 | pathogenic | -0.471 | Destabilizing | 0.998 | D | 0.365 | neutral | None | None | None | None | N |
| S/R | 0.9449 | likely_pathogenic | 0.9465 | pathogenic | -0.337 | Destabilizing | 0.997 | D | 0.35 | neutral | D | 0.551211511 | None | None | N |
| S/T | 0.1194 | likely_benign | 0.1378 | benign | -0.297 | Destabilizing | 0.98 | D | 0.466 | neutral | N | 0.513498989 | None | None | N |
| S/V | 0.6252 | likely_pathogenic | 0.6661 | pathogenic | -0.09 | Destabilizing | 0.999 | D | 0.45 | neutral | None | None | None | None | N |
| S/W | 0.8611 | likely_pathogenic | 0.8331 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| S/Y | 0.7174 | likely_pathogenic | 0.7189 | pathogenic | -0.585 | Destabilizing | 0.999 | D | 0.479 | 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.