Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15889 | 47890;47891;47892 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| N2AB | 14248 | 42967;42968;42969 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| N2A | 13321 | 40186;40187;40188 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| N2B | 6824 | 20695;20696;20697 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| Novex-1 | 6949 | 21070;21071;21072 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| Novex-2 | 7016 | 21271;21272;21273 | chr2:178617420;178617419;178617418 | chr2:179482147;179482146;179482145 |
| 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/C | None | None | 0.986 | D | 0.633 | 0.313 | 0.444305618086 | gnomAD-4.0.0 | 6.94061E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04812E-07 | 0 | 0 |
| S/R | None | None | 0.949 | D | 0.647 | 0.302 | 0.386882687439 | gnomAD-4.0.0 | 6.94117E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04976E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1378 | likely_benign | 0.1548 | benign | -0.535 | Destabilizing | 0.011 | N | 0.364 | neutral | None | None | None | None | N |
| S/C | 0.0971 | likely_benign | 0.1194 | benign | -0.345 | Destabilizing | 0.986 | D | 0.633 | neutral | D | 0.537574862 | None | None | N |
| S/D | 0.7769 | likely_pathogenic | 0.8477 | pathogenic | -0.278 | Destabilizing | 0.775 | D | 0.673 | neutral | None | None | None | None | N |
| S/E | 0.8131 | likely_pathogenic | 0.8521 | pathogenic | -0.311 | Destabilizing | 0.775 | D | 0.671 | neutral | None | None | None | None | N |
| S/F | 0.3445 | ambiguous | 0.4325 | ambiguous | -0.801 | Destabilizing | 0.961 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/G | 0.1687 | likely_benign | 0.1944 | benign | -0.756 | Destabilizing | 0.008 | N | 0.366 | neutral | N | 0.489416759 | None | None | N |
| S/H | 0.5962 | likely_pathogenic | 0.6691 | pathogenic | -1.316 | Destabilizing | 0.996 | D | 0.628 | neutral | None | None | None | None | N |
| S/I | 0.394 | ambiguous | 0.5048 | ambiguous | -0.064 | Destabilizing | 0.901 | D | 0.712 | prob.delet. | D | 0.640887409 | None | None | N |
| S/K | 0.9177 | likely_pathogenic | 0.9381 | pathogenic | -0.739 | Destabilizing | 0.775 | D | 0.673 | neutral | None | None | None | None | N |
| S/L | 0.1562 | likely_benign | 0.1818 | benign | -0.064 | Destabilizing | 0.633 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/M | 0.2948 | likely_benign | 0.3481 | ambiguous | 0.266 | Stabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| S/N | 0.3466 | ambiguous | 0.4643 | ambiguous | -0.588 | Destabilizing | 0.722 | D | 0.691 | prob.neutral | D | 0.606105386 | None | None | N |
| S/P | 0.9699 | likely_pathogenic | 0.9804 | pathogenic | -0.187 | Destabilizing | 0.961 | D | 0.651 | neutral | None | None | None | None | N |
| S/Q | 0.7417 | likely_pathogenic | 0.7776 | pathogenic | -0.785 | Destabilizing | 0.961 | D | 0.632 | neutral | None | None | None | None | N |
| S/R | 0.8789 | likely_pathogenic | 0.9124 | pathogenic | -0.591 | Destabilizing | 0.949 | D | 0.647 | neutral | D | 0.560990226 | None | None | N |
| S/T | 0.2016 | likely_benign | 0.2553 | benign | -0.599 | Destabilizing | 0.034 | N | 0.431 | neutral | N | 0.508463955 | None | None | N |
| S/V | 0.3858 | ambiguous | 0.484 | ambiguous | -0.187 | Destabilizing | 0.633 | D | 0.714 | prob.delet. | None | None | None | None | N |
| S/W | 0.5932 | likely_pathogenic | 0.6547 | pathogenic | -0.797 | Destabilizing | 0.996 | D | 0.777 | deleterious | None | None | None | None | N |
| S/Y | 0.3517 | ambiguous | 0.4156 | ambiguous | -0.537 | Destabilizing | 0.987 | D | 0.727 | prob.delet. | 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.