Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24660 | 74203;74204;74205 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| N2AB | 23019 | 69280;69281;69282 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| N2A | 22092 | 66499;66500;66501 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| N2B | 15595 | 47008;47009;47010 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| Novex-1 | 15720 | 47383;47384;47385 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| Novex-2 | 15787 | 47584;47585;47586 | chr2:178572154;178572153;178572152 | chr2:179436881;179436880;179436879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1444695129  |
None | 0.973 | N | 0.469 | 0.198 | 0.203808441222 | 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/N | rs1444695129 |
None | 0.973 | N | 0.469 | 0.198 | 0.203808441222 | gnomAD-4.0.0 | 1.23967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64528E-04 | 8.47716E-07 | 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 | 0.0964 | likely_benign | 0.0931 | benign | -0.303 | Destabilizing | 0.366 | N | 0.411 | neutral | None | None | None | None | N |
| S/C | 0.1242 | likely_benign | 0.1255 | benign | -0.198 | Destabilizing | 0.999 | D | 0.509 | neutral | N | 0.49945022 | None | None | N |
| S/D | 0.5266 | ambiguous | 0.4711 | ambiguous | -0.022 | Destabilizing | 0.998 | D | 0.44 | neutral | None | None | None | None | N |
| S/E | 0.6137 | likely_pathogenic | 0.5781 | pathogenic | -0.132 | Destabilizing | 0.982 | D | 0.424 | neutral | None | None | None | None | N |
| S/F | 0.293 | likely_benign | 0.2571 | benign | -0.967 | Destabilizing | 0.996 | D | 0.525 | neutral | None | None | None | None | N |
| S/G | 0.0979 | likely_benign | 0.0956 | benign | -0.382 | Destabilizing | 0.982 | D | 0.391 | neutral | N | 0.503952067 | None | None | N |
| S/H | 0.4432 | ambiguous | 0.4285 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.498 | neutral | None | None | None | None | N |
| S/I | 0.2155 | likely_benign | 0.195 | benign | -0.227 | Destabilizing | 0.989 | D | 0.485 | neutral | N | 0.49919673 | None | None | N |
| S/K | 0.7352 | likely_pathogenic | 0.6981 | pathogenic | -0.428 | Destabilizing | 0.993 | D | 0.395 | neutral | None | None | None | None | N |
| S/L | 0.0987 | likely_benign | 0.0915 | benign | -0.227 | Destabilizing | 0.181 | N | 0.359 | neutral | None | None | None | None | N |
| S/M | 0.1755 | likely_benign | 0.1721 | benign | 0.084 | Stabilizing | 0.996 | D | 0.485 | neutral | None | None | None | None | N |
| S/N | 0.1433 | likely_benign | 0.144 | benign | -0.099 | Destabilizing | 0.973 | D | 0.469 | neutral | N | 0.463567197 | None | None | N |
| S/P | 0.7719 | likely_pathogenic | 0.705 | pathogenic | -0.226 | Destabilizing | 0.998 | D | 0.457 | neutral | None | None | None | None | N |
| S/Q | 0.5435 | ambiguous | 0.5281 | ambiguous | -0.407 | Destabilizing | 0.999 | D | 0.44 | neutral | None | None | None | None | N |
| S/R | 0.7007 | likely_pathogenic | 0.6658 | pathogenic | -0.176 | Destabilizing | 0.997 | D | 0.457 | neutral | N | 0.472165252 | None | None | N |
| S/T | 0.0756 | likely_benign | 0.0741 | benign | -0.22 | Destabilizing | 0.626 | D | 0.419 | neutral | N | 0.457681059 | None | None | N |
| S/V | 0.1998 | likely_benign | 0.184 | benign | -0.226 | Destabilizing | 0.93 | D | 0.443 | neutral | None | None | None | None | N |
| S/W | 0.4573 | ambiguous | 0.4162 | ambiguous | -0.982 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| S/Y | 0.2797 | likely_benign | 0.2599 | benign | -0.699 | Destabilizing | 0.998 | D | 0.554 | 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.