Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6021 | 18286;18287;18288 | chr2:178730339;178730338;178730337 | chr2:179595066;179595065;179595064 |
| N2AB | 5704 | 17335;17336;17337 | chr2:178730339;178730338;178730337 | chr2:179595066;179595065;179595064 |
| N2A | 4777 | 14554;14555;14556 | chr2:178730339;178730338;178730337 | chr2:179595066;179595065;179595064 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1302820509  |
0.207 | 0.983 | N | 0.333 | 0.34 | 0.407901774203 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.2E-06 | 0 |
| Q/E | rs1302820509 |
0.207 | 0.983 | N | 0.333 | 0.34 | 0.407901774203 | gnomAD-4.0.0 | 1.6055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88374E-06 | 0 | 0 |
| Q/H | rs752853744 |
-0.552 | 0.998 | N | 0.367 | 0.409 | 0.343334270461 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.19E-06 | 0 |
| Q/H | rs752853744 |
-0.552 | 0.998 | N | 0.367 | 0.409 | 0.343334270461 | gnomAD-4.0.0 | 2.06005E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70552E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.294 | likely_benign | 0.2867 | benign | -0.519 | Destabilizing | 0.927 | D | 0.365 | neutral | None | None | None | None | N |
| Q/C | 0.6717 | likely_pathogenic | 0.6522 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.48 | neutral | None | None | None | None | N |
| Q/D | 0.5973 | likely_pathogenic | 0.5971 | pathogenic | -0.093 | Destabilizing | 0.995 | D | 0.321 | neutral | None | None | None | None | N |
| Q/E | 0.096 | likely_benign | 0.0979 | benign | -0.028 | Destabilizing | 0.983 | D | 0.333 | neutral | N | 0.499784567 | None | None | N |
| Q/F | 0.6804 | likely_pathogenic | 0.6692 | pathogenic | -0.378 | Destabilizing | 0.991 | D | 0.491 | neutral | None | None | None | None | N |
| Q/G | 0.4459 | ambiguous | 0.4187 | ambiguous | -0.831 | Destabilizing | 0.984 | D | 0.413 | neutral | None | None | None | None | N |
| Q/H | 0.3101 | likely_benign | 0.3053 | benign | -0.757 | Destabilizing | 0.998 | D | 0.367 | neutral | N | 0.500038056 | None | None | N |
| Q/I | 0.3047 | likely_benign | 0.2936 | benign | 0.254 | Stabilizing | 0.939 | D | 0.474 | neutral | None | None | None | None | N |
| Q/K | 0.0956 | likely_benign | 0.1002 | benign | -0.065 | Destabilizing | 0.951 | D | 0.33 | neutral | N | 0.506718305 | None | None | N |
| Q/L | 0.1432 | likely_benign | 0.1398 | benign | 0.254 | Stabilizing | 0.828 | D | 0.348 | neutral | N | 0.481934504 | None | None | N |
| Q/M | 0.3114 | likely_benign | 0.3082 | benign | 0.61 | Stabilizing | 0.546 | D | 0.167 | neutral | None | None | None | None | N |
| Q/N | 0.5001 | ambiguous | 0.4955 | ambiguous | -0.576 | Destabilizing | 0.995 | D | 0.347 | neutral | None | None | None | None | N |
| Q/P | 0.6527 | likely_pathogenic | 0.6276 | pathogenic | 0.028 | Stabilizing | 0.998 | D | 0.443 | neutral | N | 0.508431847 | None | None | N |
| Q/R | 0.1131 | likely_benign | 0.114 | benign | -0.065 | Destabilizing | 0.979 | D | 0.337 | neutral | N | 0.49575195 | None | None | N |
| Q/S | 0.4017 | ambiguous | 0.3914 | ambiguous | -0.659 | Destabilizing | 0.984 | D | 0.285 | neutral | None | None | None | None | N |
| Q/T | 0.2438 | likely_benign | 0.2366 | benign | -0.397 | Destabilizing | 0.984 | D | 0.375 | neutral | None | None | None | None | N |
| Q/V | 0.1965 | likely_benign | 0.1897 | benign | 0.028 | Stabilizing | 0.864 | D | 0.38 | neutral | None | None | None | None | N |
| Q/W | 0.5726 | likely_pathogenic | 0.5482 | ambiguous | -0.246 | Destabilizing | 1.0 | D | 0.469 | neutral | None | None | None | None | N |
| Q/Y | 0.5207 | ambiguous | 0.513 | ambiguous | -0.013 | Destabilizing | 0.999 | D | 0.454 | 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.