Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29266 | 88021;88022;88023 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| N2AB | 27625 | 83098;83099;83100 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| N2A | 26698 | 80317;80318;80319 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| N2B | 20201 | 60826;60827;60828 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| Novex-1 | 20326 | 61201;61202;61203 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| Novex-2 | 20393 | 61402;61403;61404 | chr2:178557466;178557465;178557464 | chr2:179422193;179422192;179422191 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs936504137  |
None | 1.0 | N | 0.708 | 0.482 | 0.430126000877 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7803 | likely_pathogenic | 0.8165 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.502476684 | None | None | I |
| G/C | 0.8277 | likely_pathogenic | 0.8729 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.55765205 | None | None | I |
| G/D | 0.7904 | likely_pathogenic | 0.8571 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.522404591 | None | None | I |
| G/E | 0.8935 | likely_pathogenic | 0.9197 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/F | 0.9737 | likely_pathogenic | 0.978 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.9217 | likely_pathogenic | 0.9431 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/I | 0.9613 | likely_pathogenic | 0.9706 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9236 | likely_pathogenic | 0.9495 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9548 | likely_pathogenic | 0.9666 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9656 | likely_pathogenic | 0.9723 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/N | 0.7743 | likely_pathogenic | 0.8368 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/P | 0.9925 | likely_pathogenic | 0.9954 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/Q | 0.8855 | likely_pathogenic | 0.9123 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.8657 | likely_pathogenic | 0.9025 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.516163621 | None | None | I |
| G/S | 0.49 | ambiguous | 0.5728 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.509553802 | None | None | I |
| G/T | 0.8767 | likely_pathogenic | 0.9006 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.9402 | likely_pathogenic | 0.9555 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.55765205 | None | None | I |
| G/W | 0.9632 | likely_pathogenic | 0.9697 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9462 | likely_pathogenic | 0.9589 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.777 | 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.