Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25911 | 77956;77957;77958 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| N2AB | 24270 | 73033;73034;73035 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| N2A | 23343 | 70252;70253;70254 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| N2B | 16846 | 50761;50762;50763 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| Novex-1 | 16971 | 51136;51137;51138 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| Novex-2 | 17038 | 51337;51338;51339 | chr2:178568401;178568400;178568399 | chr2:179433128;179433127;179433126 |
| 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/Y | rs772557856  |
-0.51 | 0.999 | N | 0.759 | 0.422 | 0.739747123138 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/Y | rs772557856 |
-0.51 | 0.999 | N | 0.759 | 0.422 | 0.739747123138 | gnomAD-4.0.0 | 1.50582E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88924E-05 | 0 | 1.65777E-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 | 0.1154 | likely_benign | 0.1409 | benign | -0.7 | Destabilizing | 0.977 | D | 0.508 | neutral | N | 0.486099814 | None | None | N |
| S/C | 0.1162 | likely_benign | 0.1301 | benign | -0.594 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.506231985 | None | None | N |
| S/D | 0.7482 | likely_pathogenic | 0.8164 | pathogenic | -1.27 | Destabilizing | 0.971 | D | 0.544 | neutral | None | None | None | None | N |
| S/E | 0.7057 | likely_pathogenic | 0.7578 | pathogenic | -1.127 | Destabilizing | 0.985 | D | 0.568 | neutral | None | None | None | None | N |
| S/F | 0.2302 | likely_benign | 0.3012 | benign | -0.585 | Destabilizing | 0.997 | D | 0.743 | deleterious | N | 0.521120236 | None | None | N |
| S/G | 0.1787 | likely_benign | 0.2019 | benign | -1.075 | Destabilizing | 0.985 | D | 0.503 | neutral | None | None | None | None | N |
| S/H | 0.3661 | ambiguous | 0.3993 | ambiguous | -1.55 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/I | 0.2563 | likely_benign | 0.298 | benign | 0.231 | Stabilizing | 0.671 | D | 0.444 | neutral | None | None | None | None | N |
| S/K | 0.7469 | likely_pathogenic | 0.794 | pathogenic | -0.512 | Destabilizing | 0.985 | D | 0.568 | neutral | None | None | None | None | N |
| S/L | 0.1385 | likely_benign | 0.1715 | benign | 0.231 | Stabilizing | 0.971 | D | 0.562 | neutral | None | None | None | None | N |
| S/M | 0.2316 | likely_benign | 0.265 | benign | 0.249 | Stabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| S/N | 0.2869 | likely_benign | 0.3573 | ambiguous | -1.047 | Destabilizing | 0.469 | N | 0.471 | neutral | None | None | None | None | N |
| S/P | 0.9838 | likely_pathogenic | 0.99 | pathogenic | -0.043 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | D | 0.543832847 | None | None | N |
| S/Q | 0.5404 | ambiguous | 0.5868 | pathogenic | -0.896 | Destabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | N |
| S/R | 0.6605 | likely_pathogenic | 0.7184 | pathogenic | -0.766 | Destabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/T | 0.0936 | likely_benign | 0.1037 | benign | -0.753 | Destabilizing | 0.98 | D | 0.521 | neutral | N | 0.472132934 | None | None | N |
| S/V | 0.2654 | likely_benign | 0.3053 | benign | -0.043 | Destabilizing | 0.971 | D | 0.568 | neutral | None | None | None | None | N |
| S/W | 0.4343 | ambiguous | 0.4959 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/Y | 0.25 | likely_benign | 0.311 | benign | -0.396 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.514372286 | 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.