Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13917 | 41974;41975;41976 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| N2AB | 12276 | 37051;37052;37053 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| N2A | 11349 | 34270;34271;34272 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| N2B | 4852 | 14779;14780;14781 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| Novex-1 | 4977 | 15154;15155;15156 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| Novex-2 | 5044 | 15355;15356;15357 | chr2:178635575;178635574;178635573 | chr2:179500302;179500301;179500300 |
| 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/A | rs2060335468  |
None | 0.999 | D | 0.731 | 0.361 | 0.252681307341 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs2060335468 |
None | 0.999 | D | 0.731 | 0.361 | 0.252681307341 | gnomAD-4.0.0 | 6.58709E-06 | None | None | None | None | N | None | 2.41885E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs754567722 |
0.318 | 1.0 | D | 0.769 | 0.358 | 0.417081434665 | gnomAD-2.1.1 | 2.31E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.82123E-04 | None | 0 | 0 | 0 |
| P/R | rs754567722 |
0.318 | 1.0 | D | 0.769 | 0.358 | 0.417081434665 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.158E-04 | 0 |
| P/R | rs754567722 |
0.318 | 1.0 | D | 0.769 | 0.358 | 0.417081434665 | gnomAD-4.0.0 | 1.00418E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.80766E-04 | 0 |
| P/S | None | None | 1.0 | N | 0.762 | 0.321 | 0.21737058555 | gnomAD-4.0.0 | 6.93544E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.08328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1528 | likely_benign | 0.1235 | benign | -0.527 | Destabilizing | 0.999 | D | 0.731 | deleterious | D | 0.523314805 | None | None | N |
| P/C | 0.8566 | likely_pathogenic | 0.8299 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/D | 0.7887 | likely_pathogenic | 0.7204 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/E | 0.6307 | likely_pathogenic | 0.5192 | ambiguous | -0.596 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/F | 0.8685 | likely_pathogenic | 0.8394 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/G | 0.6057 | likely_pathogenic | 0.5146 | ambiguous | -0.644 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/H | 0.5763 | likely_pathogenic | 0.4711 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/I | 0.6233 | likely_pathogenic | 0.5971 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/K | 0.5808 | likely_pathogenic | 0.4225 | ambiguous | -0.405 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/L | 0.3668 | ambiguous | 0.3058 | benign | -0.372 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.482665201 | None | None | N |
| P/M | 0.6487 | likely_pathogenic | 0.621 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/N | 0.6941 | likely_pathogenic | 0.654 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/Q | 0.4356 | ambiguous | 0.3251 | benign | -0.384 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.526899784 | None | None | N |
| P/R | 0.4876 | ambiguous | 0.3489 | ambiguous | 0.151 | Stabilizing | 1.0 | D | 0.769 | deleterious | D | 0.523511775 | None | None | N |
| P/S | 0.386 | ambiguous | 0.2937 | benign | -0.402 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.437944795 | None | None | N |
| P/T | 0.3109 | likely_benign | 0.2488 | benign | -0.442 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.460500904 | None | None | N |
| P/V | 0.4624 | ambiguous | 0.4443 | ambiguous | -0.389 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| P/W | 0.9358 | likely_pathogenic | 0.9032 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Y | 0.8278 | likely_pathogenic | 0.7809 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.753 | 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.