Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8032 | 24319;24320;24321 | chr2:178719296;178719295;178719294 | chr2:179584023;179584022;179584021 |
| N2AB | 7715 | 23368;23369;23370 | chr2:178719296;178719295;178719294 | chr2:179584023;179584022;179584021 |
| N2A | 6788 | 20587;20588;20589 | chr2:178719296;178719295;178719294 | chr2:179584023;179584022;179584021 |
| 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/R | rs529079424  |
0.532 | None | N | 0.093 | 0.166 | 0.208816687407 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| Q/R | rs529079424 |
0.532 | None | N | 0.093 | 0.166 | 0.208816687407 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Q/R | rs529079424 |
0.532 | None | N | 0.093 | 0.166 | 0.208816687407 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Q/R | rs529079424 |
0.532 | None | N | 0.093 | 0.166 | 0.208816687407 | gnomAD-4.0.0 | 3.84283E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02037E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1969 | likely_benign | 0.2088 | benign | -0.172 | Destabilizing | 0.014 | N | 0.257 | neutral | None | None | None | None | I |
| Q/C | 0.4067 | ambiguous | 0.4186 | ambiguous | 0.305 | Stabilizing | 0.864 | D | 0.427 | neutral | None | None | None | None | I |
| Q/D | 0.2378 | likely_benign | 0.2596 | benign | -0.748 | Destabilizing | 0.007 | N | 0.172 | neutral | None | None | None | None | I |
| Q/E | 0.0822 | likely_benign | 0.0837 | benign | -0.762 | Destabilizing | None | N | 0.073 | neutral | N | 0.457521636 | None | None | I |
| Q/F | 0.4166 | ambiguous | 0.4233 | ambiguous | -0.621 | Destabilizing | 0.214 | N | 0.475 | neutral | None | None | None | None | I |
| Q/G | 0.1993 | likely_benign | 0.22 | benign | -0.364 | Destabilizing | 0.031 | N | 0.329 | neutral | None | None | None | None | I |
| Q/H | 0.1149 | likely_benign | 0.1183 | benign | -0.778 | Destabilizing | None | N | 0.149 | neutral | N | 0.494637229 | None | None | I |
| Q/I | 0.2321 | likely_benign | 0.2431 | benign | 0.25 | Stabilizing | 0.136 | N | 0.508 | neutral | None | None | None | None | I |
| Q/K | 0.0832 | likely_benign | 0.0871 | benign | 0.175 | Stabilizing | None | N | 0.099 | neutral | N | 0.459001716 | None | None | I |
| Q/L | 0.1028 | likely_benign | 0.1067 | benign | 0.25 | Stabilizing | 0.024 | N | 0.378 | neutral | N | 0.517820733 | None | None | I |
| Q/M | 0.3024 | likely_benign | 0.3203 | benign | 0.901 | Stabilizing | 0.628 | D | 0.302 | neutral | None | None | None | None | I |
| Q/N | 0.1964 | likely_benign | 0.2071 | benign | -0.213 | Destabilizing | 0.016 | N | 0.225 | neutral | None | None | None | None | I |
| Q/P | 0.1858 | likely_benign | 0.2182 | benign | 0.137 | Stabilizing | 0.106 | N | 0.408 | neutral | N | 0.514231972 | None | None | I |
| Q/R | 0.0777 | likely_benign | 0.0785 | benign | 0.238 | Stabilizing | None | N | 0.093 | neutral | N | 0.474587244 | None | None | I |
| Q/S | 0.1688 | likely_benign | 0.1878 | benign | -0.162 | Destabilizing | 0.031 | N | 0.175 | neutral | None | None | None | None | I |
| Q/T | 0.1519 | likely_benign | 0.1691 | benign | -0.03 | Destabilizing | 0.031 | N | 0.343 | neutral | None | None | None | None | I |
| Q/V | 0.171 | likely_benign | 0.1813 | benign | 0.137 | Stabilizing | 0.061 | N | 0.415 | neutral | None | None | None | None | I |
| Q/W | 0.3038 | likely_benign | 0.3104 | benign | -0.639 | Destabilizing | 0.864 | D | 0.427 | neutral | None | None | None | None | I |
| Q/Y | 0.2442 | likely_benign | 0.2531 | benign | -0.276 | Destabilizing | 0.038 | N | 0.447 | 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.