Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29083 | 87472;87473;87474 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| N2AB | 27442 | 82549;82550;82551 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| N2A | 26515 | 79768;79769;79770 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| N2B | 20018 | 60277;60278;60279 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| Novex-1 | 20143 | 60652;60653;60654 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| Novex-2 | 20210 | 60853;60854;60855 | chr2:178558107;178558106;178558105 | chr2:179422834;179422833;179422832 |
| 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/F | rs139099170  |
-0.62 | 0.427 | N | 0.373 | 0.107 | None | 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 |
| V/F | rs139099170 |
-0.62 | 0.427 | N | 0.373 | 0.107 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs139099170 |
-0.62 | 0.427 | N | 0.373 | 0.107 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/F | rs139099170 |
-0.62 | 0.427 | N | 0.373 | 0.107 | None | gnomAD-4.0.0 | 6.56737E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| V/I | rs139099170 |
0.046 | 0.001 | N | 0.211 | 0.084 | 0.339316883193 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11532E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs139099170 |
0.046 | 0.001 | N | 0.211 | 0.084 | 0.339316883193 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 3.85654E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs139099170 |
0.046 | 0.001 | N | 0.211 | 0.084 | 0.339316883193 | gnomAD-4.0.0 | 1.97174E-05 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 3.85654E-04 | None | 0 | 0 | 0 | 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 | 0.1118 | likely_benign | 0.1117 | benign | -0.398 | Destabilizing | 0.042 | N | 0.244 | neutral | N | 0.438434442 | None | None | N |
| V/C | 0.424 | ambiguous | 0.48 | ambiguous | -0.705 | Destabilizing | 0.958 | D | 0.365 | neutral | None | None | None | None | N |
| V/D | 0.1952 | likely_benign | 0.2058 | benign | -0.045 | Destabilizing | 0.427 | N | 0.431 | neutral | N | 0.482668009 | None | None | N |
| V/E | 0.161 | likely_benign | 0.1657 | benign | -0.151 | Destabilizing | 0.124 | N | 0.403 | neutral | None | None | None | None | N |
| V/F | 0.0881 | likely_benign | 0.0967 | benign | -0.604 | Destabilizing | 0.427 | N | 0.373 | neutral | N | 0.483534801 | None | None | N |
| V/G | 0.1303 | likely_benign | 0.1365 | benign | -0.519 | Destabilizing | 0.175 | N | 0.405 | neutral | N | 0.445747204 | None | None | N |
| V/H | 0.2577 | likely_benign | 0.2791 | benign | -0.079 | Destabilizing | 0.883 | D | 0.411 | neutral | None | None | None | None | N |
| V/I | 0.0573 | likely_benign | 0.0602 | benign | -0.227 | Destabilizing | 0.001 | N | 0.211 | neutral | N | 0.445573846 | None | None | N |
| V/K | 0.1771 | likely_benign | 0.1941 | benign | -0.367 | Destabilizing | 0.124 | N | 0.399 | neutral | None | None | None | None | N |
| V/L | 0.0841 | likely_benign | 0.0967 | benign | -0.227 | Destabilizing | None | N | 0.143 | neutral | N | 0.423755779 | None | None | N |
| V/M | 0.0752 | likely_benign | 0.0788 | benign | -0.377 | Destabilizing | 0.011 | N | 0.203 | neutral | None | None | None | None | N |
| V/N | 0.0965 | likely_benign | 0.11 | benign | -0.169 | Destabilizing | 0.497 | N | 0.436 | neutral | None | None | None | None | N |
| V/P | 0.5548 | ambiguous | 0.6169 | pathogenic | -0.25 | Destabilizing | 0.667 | D | 0.417 | neutral | None | None | None | None | N |
| V/Q | 0.1446 | likely_benign | 0.1544 | benign | -0.367 | Destabilizing | 0.025 | N | 0.278 | neutral | None | None | None | None | N |
| V/R | 0.183 | likely_benign | 0.2022 | benign | 0.093 | Stabilizing | 0.497 | N | 0.425 | neutral | None | None | None | None | N |
| V/S | 0.1037 | likely_benign | 0.1074 | benign | -0.559 | Destabilizing | 0.124 | N | 0.375 | neutral | None | None | None | None | N |
| V/T | 0.1136 | likely_benign | 0.115 | benign | -0.559 | Destabilizing | 0.004 | N | 0.249 | neutral | None | None | None | None | N |
| V/W | 0.5659 | likely_pathogenic | 0.6026 | pathogenic | -0.687 | Destabilizing | 0.958 | D | 0.437 | neutral | None | None | None | None | N |
| V/Y | 0.2689 | likely_benign | 0.3008 | benign | -0.389 | Destabilizing | 0.667 | D | 0.363 | 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.