Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20401 | 61426;61427;61428 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| N2AB | 18760 | 56503;56504;56505 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| N2A | 17833 | 53722;53723;53724 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| N2B | 11336 | 34231;34232;34233 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| Novex-1 | 11461 | 34606;34607;34608 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| Novex-2 | 11528 | 34807;34808;34809 | chr2:178590524;178590523;178590522 | chr2:179455251;179455250;179455249 |
| 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/G | rs751194131  |
-1.22 | 0.999 | N | 0.578 | 0.364 | 0.32980341726 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| S/G | rs751194131 |
-1.22 | 0.999 | N | 0.578 | 0.364 | 0.32980341726 | gnomAD-4.0.0 | 3.42254E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49879E-06 | 0 | 0 |
| S/R | rs779637589 |
-0.52 | 1.0 | N | 0.78 | 0.521 | 0.435808882951 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 1.41044E-04 |
| S/R | rs779637589 |
-0.52 | 1.0 | N | 0.78 | 0.521 | 0.435808882951 | 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 |
| S/R | rs779637589 |
-0.52 | 1.0 | N | 0.78 | 0.521 | 0.435808882951 | gnomAD-4.0.0 | 5.1303E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18645E-06 | 1.34167E-05 | 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 | 0.2742 | likely_benign | 0.2558 | benign | -0.574 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | I |
| S/C | 0.2679 | likely_benign | 0.2866 | benign | -0.419 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.48043782 | None | None | I |
| S/D | 0.9731 | likely_pathogenic | 0.9709 | pathogenic | -0.173 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
| S/E | 0.975 | likely_pathogenic | 0.9716 | pathogenic | -0.214 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/F | 0.6889 | likely_pathogenic | 0.6985 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| S/G | 0.463 | ambiguous | 0.5028 | ambiguous | -0.775 | Destabilizing | 0.999 | D | 0.578 | neutral | N | 0.464728832 | None | None | I |
| S/H | 0.8054 | likely_pathogenic | 0.8121 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| S/I | 0.8716 | likely_pathogenic | 0.858 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.506985091 | None | None | I |
| S/K | 0.9889 | likely_pathogenic | 0.9882 | pathogenic | -0.655 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | I |
| S/L | 0.4516 | ambiguous | 0.4512 | ambiguous | -0.158 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| S/M | 0.6136 | likely_pathogenic | 0.6353 | pathogenic | 0.181 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| S/N | 0.7955 | likely_pathogenic | 0.757 | pathogenic | -0.515 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.495628786 | None | None | I |
| S/P | 0.995 | likely_pathogenic | 0.9949 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| S/Q | 0.9207 | likely_pathogenic | 0.9211 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| S/R | 0.9829 | likely_pathogenic | 0.9815 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.495246711 | None | None | I |
| S/T | 0.5432 | ambiguous | 0.5473 | ambiguous | -0.568 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.476118952 | None | None | I |
| S/V | 0.8309 | likely_pathogenic | 0.8221 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| S/W | 0.8207 | likely_pathogenic | 0.8567 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| S/Y | 0.6313 | likely_pathogenic | 0.6386 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.818 | deleterious | 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.