Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30119 | 90580;90581;90582 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| N2AB | 28478 | 85657;85658;85659 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| N2A | 27551 | 82876;82877;82878 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| N2B | 21054 | 63385;63386;63387 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| Novex-1 | 21179 | 63760;63761;63762 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| Novex-2 | 21246 | 63961;63962;63963 | chr2:178552545;178552544;178552543 | chr2:179417272;179417271;179417270 |
| 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/S | rs1183493843  |
-0.674 | 0.997 | N | 0.785 | 0.398 | 0.462635795511 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs1183493843 |
-0.674 | 0.997 | N | 0.785 | 0.398 | 0.462635795511 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| P/T | rs1183493843 |
-0.65 | 0.999 | N | 0.768 | 0.381 | 0.658592010494 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/T | rs1183493843 |
-0.65 | 0.999 | N | 0.768 | 0.381 | 0.658592010494 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| P/T | rs1183493843 |
-0.65 | 0.999 | N | 0.768 | 0.381 | 0.658592010494 | gnomAD-4.0.0 | 3.84373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02048E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1708 | likely_benign | 0.1397 | benign | -0.449 | Destabilizing | 0.996 | D | 0.78 | deleterious | N | 0.514722043 | None | None | N |
| P/C | 0.6761 | likely_pathogenic | 0.6011 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.494 | ambiguous | 0.445 | ambiguous | -0.238 | Destabilizing | 0.522 | D | 0.455 | neutral | None | None | None | None | N |
| P/E | 0.3687 | ambiguous | 0.3545 | ambiguous | -0.329 | Destabilizing | 0.987 | D | 0.797 | deleterious | None | None | None | None | N |
| P/F | 0.6708 | likely_pathogenic | 0.6175 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/G | 0.524 | ambiguous | 0.4503 | ambiguous | -0.595 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| P/H | 0.3619 | ambiguous | 0.304 | benign | -0.053 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/I | 0.4741 | ambiguous | 0.4366 | ambiguous | -0.205 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/K | 0.5121 | ambiguous | 0.4793 | ambiguous | -0.481 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| P/L | 0.2371 | likely_benign | 0.2088 | benign | -0.205 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.516749959 | None | None | N |
| P/M | 0.4337 | ambiguous | 0.3923 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.4038 | ambiguous | 0.3529 | ambiguous | -0.293 | Destabilizing | 0.998 | D | 0.844 | deleterious | None | None | None | None | N |
| P/Q | 0.2775 | likely_benign | 0.2373 | benign | -0.492 | Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.54595703 | None | None | N |
| P/R | 0.4233 | ambiguous | 0.3718 | ambiguous | 0.02 | Stabilizing | 0.999 | D | 0.879 | deleterious | D | 0.54595703 | None | None | N |
| P/S | 0.2313 | likely_benign | 0.1937 | benign | -0.679 | Destabilizing | 0.997 | D | 0.785 | deleterious | N | 0.513375236 | None | None | N |
| P/T | 0.1904 | likely_benign | 0.1662 | benign | -0.664 | Destabilizing | 0.999 | D | 0.768 | deleterious | N | 0.503063023 | None | None | N |
| P/V | 0.359 | ambiguous | 0.3185 | benign | -0.252 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/W | 0.8285 | likely_pathogenic | 0.7814 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Y | 0.6437 | likely_pathogenic | 0.5989 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.88 | 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.