Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33271 | 100036;100037;100038 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| N2AB | 31630 | 95113;95114;95115 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| N2A | 30703 | 92332;92333;92334 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| N2B | 24206 | 72841;72842;72843 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| Novex-1 | 24331 | 73216;73217;73218 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| Novex-2 | 24398 | 73417;73418;73419 | chr2:178537396;178537395;178537394 | chr2:179402123;179402122;179402121 |
| 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/H | rs1201464356  |
-1.243 | 1.0 | N | 0.646 | 0.326 | 0.257786959452 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| Q/H | rs1201464356 |
-1.243 | 1.0 | N | 0.646 | 0.326 | 0.257786959452 | gnomAD-4.0.0 | 1.61262E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90539E-06 | 0 | 0 |
| Q/P | rs1262109870 |
-0.544 | 1.0 | N | 0.747 | 0.496 | 0.471211772063 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| Q/P | rs1262109870 |
-0.544 | 1.0 | N | 0.747 | 0.496 | 0.471211772063 | gnomAD-4.0.0 | 1.61091E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90256E-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 | 0.5228 | ambiguous | 0.458 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| Q/C | 0.8148 | likely_pathogenic | 0.7826 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| Q/D | 0.939 | likely_pathogenic | 0.9044 | pathogenic | -1.348 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | I |
| Q/E | 0.22 | likely_benign | 0.1859 | benign | -1.18 | Destabilizing | 0.999 | D | 0.506 | neutral | N | 0.431183183 | None | None | I |
| Q/F | 0.9127 | likely_pathogenic | 0.8776 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| Q/G | 0.7732 | likely_pathogenic | 0.7051 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| Q/H | 0.5197 | ambiguous | 0.4138 | ambiguous | -1.07 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.456350987 | None | None | I |
| Q/I | 0.5566 | ambiguous | 0.4849 | ambiguous | 0.151 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| Q/K | 0.1678 | likely_benign | 0.1471 | benign | -0.411 | Destabilizing | 1.0 | D | 0.571 | neutral | N | 0.429796317 | None | None | I |
| Q/L | 0.3408 | ambiguous | 0.2777 | benign | 0.151 | Stabilizing | 0.998 | D | 0.71 | prob.delet. | N | 0.462026165 | None | None | I |
| Q/M | 0.5555 | ambiguous | 0.5029 | ambiguous | 0.53 | Stabilizing | 0.997 | D | 0.391 | neutral | None | None | None | None | I |
| Q/N | 0.7284 | likely_pathogenic | 0.6285 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| Q/P | 0.9882 | likely_pathogenic | 0.9788 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.499717762 | None | None | I |
| Q/R | 0.1927 | likely_benign | 0.1684 | benign | -0.409 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.410442552 | None | None | I |
| Q/S | 0.5905 | likely_pathogenic | 0.5018 | ambiguous | -1.305 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | I |
| Q/T | 0.4129 | ambiguous | 0.3402 | ambiguous | -0.937 | Destabilizing | 0.995 | D | 0.688 | prob.neutral | None | None | None | None | I |
| Q/V | 0.4334 | ambiguous | 0.3724 | ambiguous | -0.162 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | I |
| Q/W | 0.9184 | likely_pathogenic | 0.8941 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| Q/Y | 0.8487 | likely_pathogenic | 0.7863 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.751 | deleterious | 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.