Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19115 | 57568;57569;57570 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| N2AB | 17474 | 52645;52646;52647 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| N2A | 16547 | 49864;49865;49866 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| N2B | 10050 | 30373;30374;30375 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| Novex-1 | 10175 | 30748;30749;30750 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| Novex-2 | 10242 | 30949;30950;30951 | chr2:178597739;178597738;178597737 | chr2:179462466;179462465;179462464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1479994671  |
-0.394 | 1.0 | N | 0.731 | 0.494 | 0.742901043909 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| Y/C | rs1479994671 |
-0.394 | 1.0 | N | 0.731 | 0.494 | 0.742901043909 | gnomAD-4.0.0 | 6.36951E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14394E-05 | 0 | 0 |
| Y/H | None | None | 1.0 | N | 0.653 | 0.49 | 0.601870671465 | gnomAD-4.0.0 | 3.42207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4981E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9032 | likely_pathogenic | 0.9398 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| Y/C | 0.6022 | likely_pathogenic | 0.7313 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.50527551 | None | None | N |
| Y/D | 0.9212 | likely_pathogenic | 0.9495 | pathogenic | 0.929 | Stabilizing | 1.0 | D | 0.765 | deleterious | N | 0.421734194 | None | None | N |
| Y/E | 0.9764 | likely_pathogenic | 0.9837 | pathogenic | 0.942 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/F | 0.1902 | likely_benign | 0.2404 | benign | -0.35 | Destabilizing | 0.999 | D | 0.517 | neutral | N | 0.516319223 | None | None | N |
| Y/G | 0.8972 | likely_pathogenic | 0.9257 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/H | 0.7325 | likely_pathogenic | 0.826 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.653 | neutral | N | 0.474952603 | None | None | N |
| Y/I | 0.8621 | likely_pathogenic | 0.8952 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/K | 0.9616 | likely_pathogenic | 0.9706 | pathogenic | -0.047 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| Y/L | 0.782 | likely_pathogenic | 0.8309 | pathogenic | -0.376 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| Y/M | 0.8806 | likely_pathogenic | 0.9111 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Y/N | 0.7617 | likely_pathogenic | 0.8383 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.477491476 | None | None | N |
| Y/P | 0.9859 | likely_pathogenic | 0.9923 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| Y/Q | 0.9545 | likely_pathogenic | 0.9688 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| Y/R | 0.8963 | likely_pathogenic | 0.9176 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| Y/S | 0.7248 | likely_pathogenic | 0.8123 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.460175152 | None | None | N |
| Y/T | 0.8356 | likely_pathogenic | 0.8934 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| Y/V | 0.7416 | likely_pathogenic | 0.8006 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| Y/W | 0.5934 | likely_pathogenic | 0.6594 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.624 | neutral | 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.