Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7504 | 22735;22736;22737 | chr2:178722277;178722276;178722275 | chr2:179587004;179587003;179587002 |
| N2AB | 7187 | 21784;21785;21786 | chr2:178722277;178722276;178722275 | chr2:179587004;179587003;179587002 |
| N2A | 6260 | 19003;19004;19005 | chr2:178722277;178722276;178722275 | chr2:179587004;179587003;179587002 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs753276275  |
-1.213 | 0.994 | N | 0.442 | 0.349 | None | gnomAD-2.1.1 | 7.53E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.64E-05 | 0 |
| A/T | rs753276275 |
-1.213 | 0.994 | N | 0.442 | 0.349 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs753276275 |
-1.213 | 0.994 | N | 0.442 | 0.349 | None | gnomAD-4.0.0 | 2.12875E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.47472E-05 | 0 | 8.09481E-05 |
| A/V | None | None | 0.999 | N | 0.578 | 0.323 | 0.587570084647 | gnomAD-4.0.0 | 9.00044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.178E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7514 | likely_pathogenic | 0.6572 | pathogenic | -1.513 | Destabilizing | 0.857 | D | 0.495 | neutral | None | None | None | None | N |
| A/D | 0.9743 | likely_pathogenic | 0.9635 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.549269302 | None | None | N |
| A/E | 0.9723 | likely_pathogenic | 0.96 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/F | 0.8468 | likely_pathogenic | 0.7745 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/G | 0.1645 | likely_benign | 0.2055 | benign | -1.371 | Destabilizing | 0.964 | D | 0.537 | neutral | N | 0.520442537 | None | None | N |
| A/H | 0.9819 | likely_pathogenic | 0.9689 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/I | 0.752 | likely_pathogenic | 0.6457 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/K | 0.9885 | likely_pathogenic | 0.9809 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/L | 0.6169 | likely_pathogenic | 0.5446 | ambiguous | -0.372 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| A/M | 0.7138 | likely_pathogenic | 0.6242 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/N | 0.9458 | likely_pathogenic | 0.9211 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/P | 0.9873 | likely_pathogenic | 0.9837 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.542521352 | None | None | N |
| A/Q | 0.9487 | likely_pathogenic | 0.9258 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/R | 0.9644 | likely_pathogenic | 0.9492 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/S | 0.2208 | likely_benign | 0.1993 | benign | -1.569 | Destabilizing | 0.96 | D | 0.437 | neutral | N | 0.504791905 | None | None | N |
| A/T | 0.3008 | likely_benign | 0.2718 | benign | -1.432 | Destabilizing | 0.994 | D | 0.442 | neutral | N | 0.488080002 | None | None | N |
| A/V | 0.4407 | ambiguous | 0.3349 | benign | -0.563 | Destabilizing | 0.999 | D | 0.578 | neutral | N | 0.489050599 | None | None | N |
| A/W | 0.9894 | likely_pathogenic | 0.9819 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/Y | 0.9645 | likely_pathogenic | 0.9406 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.781 | 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.