Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20597 | 62014;62015;62016 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| N2AB | 18956 | 57091;57092;57093 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| N2A | 18029 | 54310;54311;54312 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| N2B | 11532 | 34819;34820;34821 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| Novex-1 | 11657 | 35194;35195;35196 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| Novex-2 | 11724 | 35395;35396;35397 | chr2:178589936;178589935;178589934 | chr2:179454663;179454662;179454661 |
| 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 | rs767743135  |
-0.589 | 1.0 | N | 0.799 | 0.482 | 0.377976839388 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs767743135 |
-0.589 | 1.0 | N | 0.799 | 0.482 | 0.377976839388 | gnomAD-4.0.0 | 1.3689E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79928E-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 | 0.9686 | likely_pathogenic | 0.9742 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.513199608 | None | None | I |
| G/C | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.537179667 | None | None | I |
| G/D | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.534391282 | None | None | I |
| G/E | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/F | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/L | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/M | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/N | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Q | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.517719059 | None | None | I |
| G/S | 0.9807 | likely_pathogenic | 0.984 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.508146726 | None | None | I |
| G/T | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/V | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.525316382 | None | None | I |
| G/W | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.805 | 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.