Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28345 | 85258;85259;85260 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| N2AB | 26704 | 80335;80336;80337 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| N2A | 25777 | 77554;77555;77556 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| N2B | 19280 | 58063;58064;58065 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| Novex-1 | 19405 | 58438;58439;58440 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| Novex-2 | 19472 | 58639;58640;58641 | chr2:178561099;178561098;178561097 | chr2:179425826;179425825;179425824 |
| 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/L | rs1453883691  |
-0.222 | 1.0 | N | 0.88 | 0.444 | 0.772473105538 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| P/L | rs1453883691 |
-0.222 | 1.0 | N | 0.88 | 0.444 | 0.772473105538 | gnomAD-4.0.0 | 6.36456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.1432E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1082 | likely_benign | 0.1022 | benign | -0.76 | Destabilizing | 0.999 | D | 0.817 | deleterious | N | 0.508368956 | None | None | N |
| P/C | 0.6342 | likely_pathogenic | 0.6771 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/D | 0.7033 | likely_pathogenic | 0.7099 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.5174 | ambiguous | 0.5157 | ambiguous | -0.496 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/F | 0.6962 | likely_pathogenic | 0.7181 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.5474 | ambiguous | 0.5456 | ambiguous | -0.968 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/H | 0.4421 | ambiguous | 0.4607 | ambiguous | -0.384 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.533537541 | None | None | N |
| P/I | 0.5153 | ambiguous | 0.5168 | ambiguous | -0.335 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/K | 0.6691 | likely_pathogenic | 0.7023 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/L | 0.2646 | likely_benign | 0.2767 | benign | -0.335 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.501999839 | None | None | N |
| P/M | 0.4814 | ambiguous | 0.4798 | ambiguous | -0.399 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/N | 0.5628 | ambiguous | 0.5634 | ambiguous | -0.467 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Q | 0.3884 | ambiguous | 0.3913 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/R | 0.5331 | ambiguous | 0.5683 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.521256183 | None | None | N |
| P/S | 0.2107 | likely_benign | 0.206 | benign | -0.909 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.481916894 | None | None | N |
| P/T | 0.2062 | likely_benign | 0.1965 | benign | -0.87 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.524418631 | None | None | N |
| P/V | 0.3615 | ambiguous | 0.3628 | ambiguous | -0.44 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.8443 | likely_pathogenic | 0.8675 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.6711 | likely_pathogenic | 0.703 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.909 | 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.