Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| N2AB | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| N2A | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| N2B | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| Novex-1 | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| Novex-2 | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
| Novex-3 | 109 | 550;551;552 | chr2:178800653;178800652;178800651 | chr2:179665380;179665379;179665378 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs766434493  |
-0.018 | 1.0 | N | 0.739 | 0.476 | 0.319114376414 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | -2.262(TCAP) | N | None | 0 | 5.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| R/Q | rs766434493 |
-0.018 | 1.0 | N | 0.739 | 0.476 | 0.319114376414 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -2.262(TCAP) | N | None | 0 | 1.30856E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs766434493 |
-0.018 | 1.0 | N | 0.739 | 0.476 | 0.319114376414 | gnomAD-4.0.0 | 8.07592E-06 | None | None | None | -2.262(TCAP) | N | None | 0 | 6.69905E-05 | None | 0 | 0 | None | 1.56637E-05 | 0 | 5.9435E-06 | 1.10536E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7391 | likely_pathogenic | 0.7803 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | -1.989(TCAP) | N |
| R/C | 0.6135 | likely_pathogenic | 0.6306 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -2.335(TCAP) | N |
| R/D | 0.9017 | likely_pathogenic | 0.9135 | pathogenic | 0.088 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | -2.25(TCAP) | N |
| R/E | 0.6631 | likely_pathogenic | 0.6781 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | -2.214(TCAP) | N |
| R/F | 0.8837 | likely_pathogenic | 0.9075 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -2.051(TCAP) | N |
| R/G | 0.6046 | likely_pathogenic | 0.6498 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.479275653 | None | -1.99(TCAP) | N |
| R/H | 0.2294 | likely_benign | 0.2443 | benign | -1.094 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | -0.733(TCAP) | N |
| R/I | 0.6808 | likely_pathogenic | 0.7192 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | -1.94(TCAP) | N |
| R/K | 0.2065 | likely_benign | 0.214 | benign | -0.35 | Destabilizing | 0.998 | D | 0.515 | neutral | None | None | None | -0.723(TCAP) | N |
| R/L | 0.5283 | ambiguous | 0.5734 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.48570895 | None | -1.94(TCAP) | N |
| R/M | 0.6727 | likely_pathogenic | 0.7075 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | -2.147(TCAP) | N |
| R/N | 0.8243 | likely_pathogenic | 0.8475 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -2.174(TCAP) | N |
| R/P | 0.6485 | likely_pathogenic | 0.7309 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.445440713 | None | -1.963(TCAP) | N |
| R/Q | 0.1976 | likely_benign | 0.2093 | benign | -0.23 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.504993655 | None | -2.262(TCAP) | N |
| R/S | 0.7884 | likely_pathogenic | 0.8193 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | -1.896(TCAP) | N |
| R/T | 0.6052 | likely_pathogenic | 0.6486 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | -1.892(TCAP) | N |
| R/V | 0.7145 | likely_pathogenic | 0.7482 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | -1.963(TCAP) | N |
| R/W | 0.5697 | likely_pathogenic | 0.6194 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | -2.098(TCAP) | N |
| R/Y | 0.7429 | likely_pathogenic | 0.7814 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | -2.194(TCAP) | 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.