Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30210 | 90853;90854;90855 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| N2AB | 28569 | 85930;85931;85932 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| N2A | 27642 | 83149;83150;83151 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| N2B | 21145 | 63658;63659;63660 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| Novex-1 | 21270 | 64033;64034;64035 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| Novex-2 | 21337 | 64234;64235;64236 | chr2:178552272;178552271;178552270 | chr2:179416999;179416998;179416997 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs767880082  |
0.156 | 0.004 | N | 0.285 | 0.07 | 0.28798054836 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/A | rs767880082 |
0.156 | 0.004 | N | 0.285 | 0.07 | 0.28798054836 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs767880082 |
0.156 | 0.004 | N | 0.285 | 0.07 | 0.28798054836 | gnomAD-4.0.0 | 4.33874E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93375E-06 | 0 | 0 |
| V/L | rs753025017 |
None | 0.004 | N | 0.229 | 0.044 | 0.227260227426 | gnomAD-4.0.0 | 2.05296E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69861E-06 | 0 | 0 |
| V/M | rs753025017 |
-0.15 | 0.201 | N | 0.357 | 0.074 | 0.326345978581 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| V/M | rs753025017 |
-0.15 | 0.201 | N | 0.357 | 0.074 | 0.326345978581 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs753025017 |
-0.15 | 0.201 | N | 0.357 | 0.074 | 0.326345978581 | gnomAD-4.0.0 | 2.0453E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79732E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.213 | likely_benign | 0.1924 | benign | -0.292 | Destabilizing | 0.004 | N | 0.285 | neutral | N | 0.421439752 | None | None | I |
| V/C | 0.7882 | likely_pathogenic | 0.7687 | pathogenic | -0.659 | Destabilizing | 0.977 | D | 0.523 | neutral | None | None | None | None | I |
| V/D | 0.6621 | likely_pathogenic | 0.5837 | pathogenic | -0.385 | Destabilizing | 0.92 | D | 0.583 | neutral | None | None | None | None | I |
| V/E | 0.6208 | likely_pathogenic | 0.5399 | ambiguous | -0.514 | Destabilizing | 0.81 | D | 0.565 | neutral | N | 0.505559859 | None | None | I |
| V/F | 0.2139 | likely_benign | 0.1808 | benign | -0.737 | Destabilizing | 0.85 | D | 0.505 | neutral | None | None | None | None | I |
| V/G | 0.3479 | ambiguous | 0.3059 | benign | -0.348 | Destabilizing | 0.379 | N | 0.545 | neutral | N | 0.50781073 | None | None | I |
| V/H | 0.7512 | likely_pathogenic | 0.669 | pathogenic | -0.001 | Destabilizing | 0.992 | D | 0.598 | neutral | None | None | None | None | I |
| V/I | 0.0831 | likely_benign | 0.0799 | benign | -0.295 | Destabilizing | 0.005 | N | 0.239 | neutral | None | None | None | None | I |
| V/K | 0.6427 | likely_pathogenic | 0.5664 | pathogenic | -0.324 | Destabilizing | 0.85 | D | 0.559 | neutral | None | None | None | None | I |
| V/L | 0.2449 | likely_benign | 0.2412 | benign | -0.295 | Destabilizing | 0.004 | N | 0.229 | neutral | N | 0.457149836 | None | None | I |
| V/M | 0.22 | likely_benign | 0.2045 | benign | -0.45 | Destabilizing | 0.201 | N | 0.357 | neutral | N | 0.456376904 | None | None | I |
| V/N | 0.4468 | ambiguous | 0.3538 | ambiguous | -0.074 | Destabilizing | 0.92 | D | 0.585 | neutral | None | None | None | None | I |
| V/P | 0.855 | likely_pathogenic | 0.8122 | pathogenic | -0.265 | Destabilizing | 0.92 | D | 0.588 | neutral | None | None | None | None | I |
| V/Q | 0.5599 | ambiguous | 0.4844 | ambiguous | -0.318 | Destabilizing | 0.92 | D | 0.583 | neutral | None | None | None | None | I |
| V/R | 0.5981 | likely_pathogenic | 0.5189 | ambiguous | 0.148 | Stabilizing | 0.92 | D | 0.586 | neutral | None | None | None | None | I |
| V/S | 0.3092 | likely_benign | 0.2561 | benign | -0.359 | Destabilizing | 0.447 | N | 0.571 | neutral | None | None | None | None | I |
| V/T | 0.2582 | likely_benign | 0.2333 | benign | -0.399 | Destabilizing | 0.021 | N | 0.296 | neutral | None | None | None | None | I |
| V/W | 0.9178 | likely_pathogenic | 0.8964 | pathogenic | -0.802 | Destabilizing | 0.992 | D | 0.631 | neutral | None | None | None | None | I |
| V/Y | 0.658 | likely_pathogenic | 0.5949 | pathogenic | -0.51 | Destabilizing | 0.92 | D | 0.503 | neutral | None | None | None | None | I |
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.