Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3949 | 12070;12071;12072 | chr2:178741388;178741387;178741386 | chr2:179606115;179606114;179606113 |
| N2AB | 3632 | 11119;11120;11121 | chr2:178741388;178741387;178741386 | chr2:179606115;179606114;179606113 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3586 | 10981;10982;10983 | chr2:178741388;178741387;178741386 | chr2:179606115;179606114;179606113 |
| Novex-1 | 3711 | 11356;11357;11358 | chr2:178741388;178741387;178741386 | chr2:179606115;179606114;179606113 |
| Novex-2 | 3778 | 11557;11558;11559 | chr2:178741388;178741387;178741386 | chr2:179606115;179606114;179606113 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | N | 0.749 | 0.59 | None | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85786E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.725 | 0.402 | None | gnomAD-4.0.0 | 5.47339E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29602E-06 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5816 | likely_pathogenic | 0.5796 | pathogenic | -1.604 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | I |
| C/D | 0.9064 | likely_pathogenic | 0.9274 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| C/E | 0.9306 | likely_pathogenic | 0.9512 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| C/F | 0.4075 | ambiguous | 0.4006 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.508968239 | None | None | I |
| C/G | 0.3696 | ambiguous | 0.3573 | ambiguous | -1.936 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.507771269 | None | None | I |
| C/H | 0.7788 | likely_pathogenic | 0.8284 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| C/I | 0.5888 | likely_pathogenic | 0.575 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| C/K | 0.9216 | likely_pathogenic | 0.9455 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| C/L | 0.5881 | likely_pathogenic | 0.5849 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | I |
| C/M | 0.7901 | likely_pathogenic | 0.7938 | pathogenic | 0.137 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| C/N | 0.8094 | likely_pathogenic | 0.8435 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| C/P | 0.9742 | likely_pathogenic | 0.973 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| C/Q | 0.8514 | likely_pathogenic | 0.8905 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| C/R | 0.6522 | likely_pathogenic | 0.7428 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.507360257 | None | None | I |
| C/S | 0.5024 | ambiguous | 0.5225 | ambiguous | -1.568 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.508514756 | None | None | I |
| C/T | 0.5979 | likely_pathogenic | 0.6203 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| C/V | 0.4804 | ambiguous | 0.4642 | ambiguous | -1.004 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | I |
| C/W | 0.7469 | likely_pathogenic | 0.7861 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.619511965 | None | None | I |
| C/Y | 0.534 | ambiguous | 0.5697 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.499113652 | 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.