Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23910 | 71953;71954;71955 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| N2AB | 22269 | 67030;67031;67032 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| N2A | 21342 | 64249;64250;64251 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| N2B | 14845 | 44758;44759;44760 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| Novex-1 | 14970 | 45133;45134;45135 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| Novex-2 | 15037 | 45334;45335;45336 | chr2:178574404;178574403;178574402 | chr2:179439131;179439130;179439129 |
| 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/N | rs1060500509  |
-1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1060500509 |
-1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| S/N | rs1060500509 |
-1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-4.0.0 | 2.4792E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.38203E-05 | 0 | None | 0 | 1.64582E-04 | 0 | 0 | 3.20277E-05 |
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 | 0.4283 | ambiguous | 0.4658 | ambiguous | -0.707 | Destabilizing | 0.121 | N | 0.679 | prob.neutral | None | None | None | None | N |
| S/C | 0.6531 | likely_pathogenic | 0.714 | pathogenic | -0.632 | Destabilizing | 0.976 | D | 0.74 | deleterious | D | 0.541383176 | None | None | N |
| S/D | 0.9779 | likely_pathogenic | 0.981 | pathogenic | -0.998 | Destabilizing | 0.399 | N | 0.744 | deleterious | None | None | None | None | N |
| S/E | 0.9919 | likely_pathogenic | 0.9928 | pathogenic | -0.897 | Destabilizing | 0.574 | D | 0.753 | deleterious | None | None | None | None | N |
| S/F | 0.9943 | likely_pathogenic | 0.9964 | pathogenic | -0.467 | Destabilizing | 0.935 | D | 0.819 | deleterious | None | None | None | None | N |
| S/G | 0.0584 | likely_benign | 0.0576 | benign | -1.055 | Destabilizing | 0.001 | N | 0.439 | neutral | N | 0.413476417 | None | None | N |
| S/H | 0.9861 | likely_pathogenic | 0.9871 | pathogenic | -1.473 | Destabilizing | 0.982 | D | 0.743 | deleterious | None | None | None | None | N |
| S/I | 0.9897 | likely_pathogenic | 0.9935 | pathogenic | 0.144 | Stabilizing | 0.781 | D | 0.824 | deleterious | D | 0.541129686 | None | None | N |
| S/K | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -0.876 | Destabilizing | 0.399 | N | 0.751 | deleterious | None | None | None | None | N |
| S/L | 0.9596 | likely_pathogenic | 0.9735 | pathogenic | 0.144 | Stabilizing | 0.7 | D | 0.801 | deleterious | None | None | None | None | N |
| S/M | 0.9668 | likely_pathogenic | 0.9777 | pathogenic | 0.159 | Stabilizing | 0.982 | D | 0.743 | deleterious | None | None | None | None | N |
| S/N | 0.9073 | likely_pathogenic | 0.9227 | pathogenic | -1.148 | Destabilizing | 0.334 | N | 0.736 | prob.delet. | D | 0.540369218 | None | None | N |
| S/P | 0.994 | likely_pathogenic | 0.9956 | pathogenic | -0.104 | Destabilizing | 0.826 | D | 0.767 | deleterious | None | None | None | None | N |
| S/Q | 0.9899 | likely_pathogenic | 0.9911 | pathogenic | -1.069 | Destabilizing | 0.826 | D | 0.754 | deleterious | None | None | None | None | N |
| S/R | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -0.981 | Destabilizing | 0.781 | D | 0.769 | deleterious | D | 0.529101818 | None | None | N |
| S/T | 0.6831 | likely_pathogenic | 0.7539 | pathogenic | -0.951 | Destabilizing | 0.334 | N | 0.704 | prob.neutral | D | 0.52783437 | None | None | N |
| S/V | 0.9818 | likely_pathogenic | 0.9882 | pathogenic | -0.104 | Destabilizing | 0.826 | D | 0.811 | deleterious | None | None | None | None | N |
| S/W | 0.9937 | likely_pathogenic | 0.9948 | pathogenic | -0.624 | Destabilizing | 0.982 | D | 0.843 | deleterious | None | None | None | None | N |
| S/Y | 0.9858 | likely_pathogenic | 0.9891 | pathogenic | -0.291 | Destabilizing | 0.935 | D | 0.829 | 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.