Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18704 | 56335;56336;56337 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| N2AB | 17063 | 51412;51413;51414 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| N2A | 16136 | 48631;48632;48633 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| N2B | 9639 | 29140;29141;29142 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| Novex-1 | 9764 | 29515;29516;29517 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| Novex-2 | 9831 | 29716;29717;29718 | chr2:178599791;178599790;178599789 | chr2:179464518;179464517;179464516 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs2052786840  |
None | 0.889 | N | 0.367 | 0.263 | 0.462982567029 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/L | rs2052786840 |
None | 0.889 | N | 0.367 | 0.263 | 0.462982567029 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47128E-05 | 0 | 0 |
| I/T | rs2052786313 |
None | 0.994 | N | 0.749 | 0.591 | 0.755402541478 | gnomAD-4.0.0 | 1.59836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44479E-05 | 0 |
| I/V | None | None | 0.889 | N | 0.371 | 0.294 | 0.663861624897 | gnomAD-4.0.0 | 3.19731E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.78149E-05 | 2.78909E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8724 | likely_pathogenic | 0.8398 | pathogenic | -2.625 | Highly Destabilizing | 0.992 | D | 0.693 | prob.neutral | None | None | None | None | N |
| I/C | 0.9472 | likely_pathogenic | 0.9482 | pathogenic | -2.068 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| I/D | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -3.317 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| I/E | 0.9938 | likely_pathogenic | 0.9943 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| I/F | 0.464 | ambiguous | 0.4304 | ambiguous | -1.74 | Destabilizing | 0.997 | D | 0.709 | prob.delet. | N | 0.451219234 | None | None | N |
| I/G | 0.9902 | likely_pathogenic | 0.9882 | pathogenic | -3.151 | Highly Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| I/H | 0.989 | likely_pathogenic | 0.9895 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| I/K | 0.9867 | likely_pathogenic | 0.9879 | pathogenic | -2.262 | Highly Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| I/L | 0.2 | likely_benign | 0.189 | benign | -1.058 | Destabilizing | 0.889 | D | 0.367 | neutral | N | 0.404214721 | None | None | N |
| I/M | 0.2232 | likely_benign | 0.2095 | benign | -1.105 | Destabilizing | 0.889 | D | 0.419 | neutral | N | 0.468989423 | None | None | N |
| I/N | 0.9785 | likely_pathogenic | 0.9812 | pathogenic | -2.832 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | N | 0.519080591 | None | None | N |
| I/P | 0.9936 | likely_pathogenic | 0.9921 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/Q | 0.9889 | likely_pathogenic | 0.9898 | pathogenic | -2.578 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/R | 0.9797 | likely_pathogenic | 0.9808 | pathogenic | -2.212 | Highly Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| I/S | 0.9635 | likely_pathogenic | 0.9588 | pathogenic | -3.396 | Highly Destabilizing | 0.998 | D | 0.804 | deleterious | N | 0.519080591 | None | None | N |
| I/T | 0.8749 | likely_pathogenic | 0.8395 | pathogenic | -2.963 | Highly Destabilizing | 0.994 | D | 0.749 | deleterious | N | 0.518827101 | None | None | N |
| I/V | 0.125 | likely_benign | 0.114 | benign | -1.57 | Destabilizing | 0.889 | D | 0.371 | neutral | N | 0.509393251 | None | None | N |
| I/W | 0.9798 | likely_pathogenic | 0.9777 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| I/Y | 0.9376 | likely_pathogenic | 0.9366 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | 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.