Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30840 | 92743;92744;92745 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| N2AB | 29199 | 87820;87821;87822 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| N2A | 28272 | 85039;85040;85041 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| N2B | 21775 | 65548;65549;65550 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| Novex-1 | 21900 | 65923;65924;65925 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| Novex-2 | 21967 | 66124;66125;66126 | chr2:178549108;178549107;178549106 | chr2:179413835;179413834;179413833 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs772574748  |
-1.885 | 0.999 | D | 0.734 | 0.443 | 0.412064437402 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs772574748 |
-1.885 | 0.999 | D | 0.734 | 0.443 | 0.412064437402 | gnomAD-4.0.0 | 6.36444E-06 | None | None | None | None | N | None | 0 | 9.14704E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs1466809738 |
-3.71 | 1.0 | D | 0.9 | 0.589 | 0.848609755714 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| L/S | rs1466809738 |
-3.71 | 1.0 | D | 0.9 | 0.589 | 0.848609755714 | gnomAD-4.0.0 | 4.78927E-06 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 3.59776E-06 | 2.31863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9399 | likely_pathogenic | 0.9338 | pathogenic | -2.462 | Highly Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/C | 0.9224 | likely_pathogenic | 0.9258 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| L/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.025 | Highly Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| L/E | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| L/F | 0.5594 | ambiguous | 0.5455 | ambiguous | -1.479 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | D | 0.533420685 | None | None | N |
| L/G | 0.995 | likely_pathogenic | 0.9942 | pathogenic | -3.075 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| L/H | 0.9945 | likely_pathogenic | 0.9938 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| L/I | 0.1559 | likely_benign | 0.1408 | benign | -0.6 | Destabilizing | 0.884 | D | 0.353 | neutral | N | 0.521519107 | None | None | N |
| L/K | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| L/M | 0.2522 | likely_benign | 0.2337 | benign | -0.806 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| L/N | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| L/P | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| L/Q | 0.9919 | likely_pathogenic | 0.9908 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| L/R | 0.9906 | likely_pathogenic | 0.9898 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| L/S | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -2.968 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.557565328 | None | None | N |
| L/T | 0.9546 | likely_pathogenic | 0.947 | pathogenic | -2.451 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| L/V | 0.177 | likely_benign | 0.172 | benign | -1.214 | Destabilizing | 0.981 | D | 0.641 | neutral | N | 0.511568685 | None | None | N |
| L/W | 0.9659 | likely_pathogenic | 0.9684 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/Y | 0.9783 | likely_pathogenic | 0.9773 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.811 | 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.