Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29374 | 88345;88346;88347 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| N2AB | 27733 | 83422;83423;83424 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| N2A | 26806 | 80641;80642;80643 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| N2B | 20309 | 61150;61151;61152 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| Novex-1 | 20434 | 61525;61526;61527 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| Novex-2 | 20501 | 61726;61727;61728 | chr2:178557034;178557033;178557032 | chr2:179421761;179421760;179421759 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs878969198  |
-1.324 | None | N | 0.181 | 0.127 | 0.239305524855 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| R/K | rs878969198 |
-1.324 | None | N | 0.181 | 0.127 | 0.239305524855 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/K | rs878969198 |
-1.324 | None | N | 0.181 | 0.127 | 0.239305524855 | gnomAD-4.0.0 | 3.71818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08543E-06 | 0 | 0 |
| R/T | None | None | 0.175 | N | 0.607 | 0.235 | 0.320256813643 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52551E-05 | None | 0 | 0 | 0 | 0 | 1.65662E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7445 | likely_pathogenic | 0.6554 | pathogenic | -2.283 | Highly Destabilizing | 0.055 | N | 0.483 | neutral | None | None | None | None | N |
| R/C | 0.2395 | likely_benign | 0.1908 | benign | -2.245 | Highly Destabilizing | 0.958 | D | 0.71 | prob.delet. | None | None | None | None | N |
| R/D | 0.96 | likely_pathogenic | 0.9485 | pathogenic | -1.489 | Destabilizing | 0.22 | N | 0.617 | neutral | None | None | None | None | N |
| R/E | 0.6885 | likely_pathogenic | 0.6357 | pathogenic | -1.228 | Destabilizing | 0.055 | N | 0.479 | neutral | None | None | None | None | N |
| R/F | 0.7479 | likely_pathogenic | 0.6446 | pathogenic | -1.415 | Destabilizing | 0.497 | N | 0.701 | prob.neutral | None | None | None | None | N |
| R/G | 0.6368 | likely_pathogenic | 0.5363 | ambiguous | -2.673 | Highly Destabilizing | 0.175 | N | 0.612 | neutral | N | 0.472267384 | None | None | N |
| R/H | 0.1923 | likely_benign | 0.1611 | benign | -2.075 | Highly Destabilizing | 0.667 | D | 0.619 | neutral | None | None | None | None | N |
| R/I | 0.5027 | ambiguous | 0.4095 | ambiguous | -1.127 | Destabilizing | 0.096 | N | 0.635 | neutral | N | 0.51865216 | None | None | N |
| R/K | 0.0956 | likely_benign | 0.0845 | benign | -1.288 | Destabilizing | None | N | 0.181 | neutral | N | 0.423915202 | None | None | N |
| R/L | 0.4608 | ambiguous | 0.3679 | ambiguous | -1.127 | Destabilizing | 0.055 | N | 0.555 | neutral | None | None | None | None | N |
| R/M | 0.3897 | ambiguous | 0.3005 | benign | -1.55 | Destabilizing | 0.011 | N | 0.403 | neutral | None | None | None | None | N |
| R/N | 0.8808 | likely_pathogenic | 0.8333 | pathogenic | -1.851 | Destabilizing | 0.22 | N | 0.591 | neutral | None | None | None | None | N |
| R/P | 0.988 | likely_pathogenic | 0.9853 | pathogenic | -1.504 | Destabilizing | 0.364 | N | 0.657 | neutral | None | None | None | None | N |
| R/Q | 0.1491 | likely_benign | 0.1317 | benign | -1.65 | Destabilizing | 0.124 | N | 0.603 | neutral | None | None | None | None | N |
| R/S | 0.7868 | likely_pathogenic | 0.7098 | pathogenic | -2.795 | Highly Destabilizing | 0.042 | N | 0.535 | neutral | N | 0.470443732 | None | None | N |
| R/T | 0.5777 | likely_pathogenic | 0.4903 | ambiguous | -2.281 | Highly Destabilizing | 0.175 | N | 0.607 | neutral | N | 0.476520118 | None | None | N |
| R/V | 0.582 | likely_pathogenic | 0.4905 | ambiguous | -1.504 | Destabilizing | 0.055 | N | 0.599 | neutral | None | None | None | None | N |
| R/W | 0.3426 | ambiguous | 0.2615 | benign | -0.837 | Destabilizing | 0.958 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/Y | 0.5504 | ambiguous | 0.4444 | ambiguous | -0.789 | Destabilizing | 0.859 | D | 0.685 | prob.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.