Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7219 | 21880;21881;21882 | chr2:178723445;178723444;178723443 | chr2:179588172;179588171;179588170 |
| N2AB | 6902 | 20929;20930;20931 | chr2:178723445;178723444;178723443 | chr2:179588172;179588171;179588170 |
| N2A | 5975 | 18148;18149;18150 | chr2:178723445;178723444;178723443 | chr2:179588172;179588171;179588170 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | rs201029552  |
-0.863 | 0.001 | N | 0.513 | 0.164 | None | gnomAD-2.1.1 | 2.72308E-04 | None | None | None | None | I | None | 0 | 3.97818E-04 | None | 0 | 5.15E-05 | None | 1.96954E-04 | None | 4.02E-05 | 3.60575E-04 | 1.13186E-03 |
| S/F | rs201029552 |
-0.863 | 0.001 | N | 0.513 | 0.164 | None | gnomAD-3.1.2 | 2.16868E-04 | None | None | None | None | I | None | 4.82E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 3.6755E-04 | 8.27815E-04 | 4.78011E-04 |
| S/F | rs201029552 |
-0.863 | 0.001 | N | 0.513 | 0.164 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None |
| S/F | rs201029552 |
-0.863 | 0.001 | N | 0.513 | 0.164 | None | gnomAD-4.0.0 | 2.34959E-04 | None | None | None | None | I | None | 5.33149E-05 | 4.17181E-04 | None | 0 | 4.46508E-05 | None | 1.56338E-05 | 1.65289E-04 | 2.4758E-04 | 3.73791E-04 | 3.20328E-04 |
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 | 0.0934 | likely_benign | 0.0962 | benign | -0.482 | Destabilizing | 0.052 | N | 0.503 | neutral | N | 0.515700002 | None | None | I |
| S/C | 0.1705 | likely_benign | 0.179 | benign | -0.362 | Destabilizing | 0.915 | D | 0.547 | neutral | D | 0.55170793 | None | None | I |
| S/D | 0.4124 | ambiguous | 0.3985 | ambiguous | 0.232 | Stabilizing | 0.081 | N | 0.44 | neutral | None | None | None | None | I |
| S/E | 0.4907 | ambiguous | 0.4657 | ambiguous | 0.174 | Stabilizing | 0.149 | N | 0.452 | neutral | None | None | None | None | I |
| S/F | 0.1592 | likely_benign | 0.1612 | benign | -0.903 | Destabilizing | 0.001 | N | 0.513 | neutral | N | 0.519107044 | None | None | I |
| S/G | 0.1234 | likely_benign | 0.1176 | benign | -0.651 | Destabilizing | 0.035 | N | 0.478 | neutral | None | None | None | None | I |
| S/H | 0.2911 | likely_benign | 0.29 | benign | -1.086 | Destabilizing | 0.555 | D | 0.56 | neutral | None | None | None | None | I |
| S/I | 0.1537 | likely_benign | 0.1628 | benign | -0.158 | Destabilizing | 0.235 | N | 0.582 | neutral | None | None | None | None | I |
| S/K | 0.5348 | ambiguous | 0.5348 | ambiguous | -0.534 | Destabilizing | 0.081 | N | 0.47 | neutral | None | None | None | None | I |
| S/L | 0.1224 | likely_benign | 0.1234 | benign | -0.158 | Destabilizing | 0.081 | N | 0.512 | neutral | None | None | None | None | I |
| S/M | 0.2586 | likely_benign | 0.2586 | benign | -0.028 | Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | I |
| S/N | 0.1414 | likely_benign | 0.1369 | benign | -0.321 | Destabilizing | 0.001 | N | 0.209 | neutral | None | None | None | None | I |
| S/P | 0.605 | likely_pathogenic | 0.6706 | pathogenic | -0.235 | Destabilizing | 0.741 | D | 0.59 | neutral | D | 0.539844645 | None | None | I |
| S/Q | 0.4471 | ambiguous | 0.4327 | ambiguous | -0.499 | Destabilizing | 0.38 | N | 0.524 | neutral | None | None | None | None | I |
| S/R | 0.3977 | ambiguous | 0.3901 | ambiguous | -0.361 | Destabilizing | 0.001 | N | 0.38 | neutral | None | None | None | None | I |
| S/T | 0.0895 | likely_benign | 0.09 | benign | -0.406 | Destabilizing | 0.002 | N | 0.314 | neutral | N | 0.519260741 | None | None | I |
| S/V | 0.1671 | likely_benign | 0.1773 | benign | -0.235 | Destabilizing | 0.081 | N | 0.533 | neutral | None | None | None | None | I |
| S/W | 0.3481 | ambiguous | 0.3462 | ambiguous | -0.902 | Destabilizing | 0.824 | D | 0.605 | neutral | None | None | None | None | I |
| S/Y | 0.1704 | likely_benign | 0.1708 | benign | -0.627 | Destabilizing | 0.188 | N | 0.585 | neutral | N | 0.51524593 | None | None | I |
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.