Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16883 | 50872;50873;50874 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| N2AB | 15242 | 45949;45950;45951 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| N2A | 14315 | 43168;43169;43170 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| N2B | 7818 | 23677;23678;23679 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| Novex-1 | 7943 | 24052;24053;24054 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| Novex-2 | 8010 | 24253;24254;24255 | chr2:178611582;178611581;178611580 | chr2:179476309;179476308;179476307 |
| 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/H | rs758756600  |
-0.264 | 1.0 | D | 0.629 | 0.453 | 0.658254632336 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| P/H | rs758756600 |
-0.264 | 1.0 | D | 0.629 | 0.453 | 0.658254632336 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/H | rs758756600 |
-0.264 | 1.0 | D | 0.629 | 0.453 | 0.658254632336 | gnomAD-4.0.0 | 9.30027E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29164E-04 | 1.10232E-05 | 0 | 0 |
| P/L | rs758756600 |
None | 1.0 | D | 0.72 | 0.469 | 0.801424462809 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs758756600 |
None | 1.0 | D | 0.72 | 0.469 | 0.801424462809 | gnomAD-4.0.0 | 6.58033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47189E-05 | 0 | 0 |
| P/S | rs397517602 |
None | 1.0 | N | 0.765 | 0.366 | 0.361958692863 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 1.26695E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1983 | likely_benign | 0.1633 | benign | -0.511 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.498972328 | None | None | I |
| P/C | 0.9113 | likely_pathogenic | 0.8792 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| P/D | 0.7717 | likely_pathogenic | 0.7083 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| P/E | 0.6168 | likely_pathogenic | 0.5445 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| P/F | 0.9432 | likely_pathogenic | 0.9087 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | I |
| P/G | 0.7165 | likely_pathogenic | 0.6727 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| P/H | 0.596 | likely_pathogenic | 0.4848 | ambiguous | -0.207 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.610485693 | None | None | I |
| P/I | 0.8104 | likely_pathogenic | 0.717 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/K | 0.7274 | likely_pathogenic | 0.608 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| P/L | 0.4564 | ambiguous | 0.3535 | ambiguous | -0.306 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.643264476 | None | None | I |
| P/M | 0.7587 | likely_pathogenic | 0.6685 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| P/N | 0.6703 | likely_pathogenic | 0.6162 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/Q | 0.3983 | ambiguous | 0.3188 | benign | -0.43 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| P/R | 0.6029 | likely_pathogenic | 0.468 | ambiguous | 0.102 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.537497847 | None | None | I |
| P/S | 0.3247 | likely_benign | 0.2708 | benign | -0.552 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.477757695 | None | None | I |
| P/T | 0.3314 | likely_benign | 0.2519 | benign | -0.564 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.568018695 | None | None | I |
| P/V | 0.6213 | likely_pathogenic | 0.5172 | ambiguous | -0.339 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| P/W | 0.9769 | likely_pathogenic | 0.9604 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| P/Y | 0.9273 | likely_pathogenic | 0.8777 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | 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.