Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23958 | 72097;72098;72099 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| N2AB | 22317 | 67174;67175;67176 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| N2A | 21390 | 64393;64394;64395 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| N2B | 14893 | 44902;44903;44904 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| Novex-1 | 15018 | 45277;45278;45279 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| Novex-2 | 15085 | 45478;45479;45480 | chr2:178574260;178574259;178574258 | chr2:179438987;179438986;179438985 |
| 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/R | rs372289212  |
-0.204 | 0.484 | N | 0.814 | 0.162 | 0.163833314356 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.65385E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs372289212 |
-0.204 | 0.484 | N | 0.814 | 0.162 | 0.163833314356 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.44732E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs372289212 |
-0.204 | 0.484 | N | 0.814 | 0.162 | 0.163833314356 | gnomAD-4.0.0 | 1.15428E-05 | None | None | None | None | N | None | 1.35332E-04 | 1.69549E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1141 | likely_benign | 0.132 | benign | -0.981 | Destabilizing | 0.016 | N | 0.354 | neutral | None | None | None | None | N |
| S/C | 0.1436 | likely_benign | 0.1757 | benign | -0.745 | Destabilizing | 0.915 | D | 0.751 | deleterious | N | 0.497401735 | None | None | N |
| S/D | 0.8205 | likely_pathogenic | 0.8353 | pathogenic | -0.969 | Destabilizing | 0.149 | N | 0.567 | neutral | None | None | None | None | N |
| S/E | 0.8682 | likely_pathogenic | 0.8962 | pathogenic | -0.85 | Destabilizing | 0.262 | N | 0.612 | neutral | None | None | None | None | N |
| S/F | 0.7135 | likely_pathogenic | 0.7553 | pathogenic | -0.838 | Destabilizing | 0.791 | D | 0.77 | deleterious | None | None | None | None | N |
| S/G | 0.0429 | likely_benign | 0.0525 | benign | -1.313 | Destabilizing | None | N | 0.163 | neutral | N | 0.281810293 | None | None | N |
| S/H | 0.6598 | likely_pathogenic | 0.6914 | pathogenic | -1.553 | Destabilizing | 0.791 | D | 0.762 | deleterious | None | None | None | None | N |
| S/I | 0.6754 | likely_pathogenic | 0.767 | pathogenic | -0.166 | Destabilizing | 0.484 | N | 0.787 | deleterious | N | 0.478546616 | None | None | N |
| S/K | 0.9568 | likely_pathogenic | 0.9714 | pathogenic | -0.473 | Destabilizing | 0.149 | N | 0.631 | neutral | None | None | None | None | N |
| S/L | 0.4235 | ambiguous | 0.5165 | ambiguous | -0.166 | Destabilizing | 0.262 | N | 0.775 | deleterious | None | None | None | None | N |
| S/M | 0.5113 | ambiguous | 0.586 | pathogenic | -0.159 | Destabilizing | 0.935 | D | 0.76 | deleterious | None | None | None | None | N |
| S/N | 0.2742 | likely_benign | 0.2741 | benign | -0.819 | Destabilizing | 0.117 | N | 0.511 | neutral | N | 0.421325109 | None | None | N |
| S/P | 0.9888 | likely_pathogenic | 0.9892 | pathogenic | -0.405 | Destabilizing | 0.555 | D | 0.813 | deleterious | None | None | None | None | N |
| S/Q | 0.772 | likely_pathogenic | 0.815 | pathogenic | -0.797 | Destabilizing | 0.555 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/R | 0.9051 | likely_pathogenic | 0.9326 | pathogenic | -0.588 | Destabilizing | 0.484 | N | 0.814 | deleterious | N | 0.438006715 | None | None | N |
| S/T | 0.2125 | likely_benign | 0.2302 | benign | -0.685 | Destabilizing | 0.117 | N | 0.48 | neutral | N | 0.428117795 | None | None | N |
| S/V | 0.6146 | likely_pathogenic | 0.6971 | pathogenic | -0.405 | Destabilizing | 0.262 | N | 0.777 | deleterious | None | None | None | None | N |
| S/W | 0.7834 | likely_pathogenic | 0.8021 | pathogenic | -0.9 | Destabilizing | 0.935 | D | 0.768 | deleterious | None | None | None | None | N |
| S/Y | 0.5169 | ambiguous | 0.5417 | ambiguous | -0.557 | Destabilizing | 0.791 | D | 0.769 | 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.