Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26618 | 80077;80078;80079 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| N2AB | 24977 | 75154;75155;75156 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| N2A | 24050 | 72373;72374;72375 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| N2B | 17553 | 52882;52883;52884 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| Novex-1 | 17678 | 53257;53258;53259 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| Novex-2 | 17745 | 53458;53459;53460 | chr2:178566280;178566279;178566278 | chr2:179431007;179431006;179431005 |
| 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/C | rs778343851  |
-0.524 | 1.0 | D | 0.701 | 0.776 | 0.908186575641 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65453E-04 |
| G/C | rs778343851 |
-0.524 | 1.0 | D | 0.701 | 0.776 | 0.908186575641 | gnomAD-4.0.0 | 4.77435E-06 | None | None | None | None | N | None | 0 | 6.86028E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.843 | 0.757 | 0.676562671139 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6945 | likely_pathogenic | 0.6655 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.58830657 | None | None | N |
| G/C | 0.9642 | likely_pathogenic | 0.9618 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.653241233 | None | None | N |
| G/D | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.652030408 | None | None | N |
| G/E | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/F | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/I | 0.9949 | likely_pathogenic | 0.9945 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/L | 0.9947 | likely_pathogenic | 0.9939 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/N | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Q | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.652837625 | None | None | N |
| G/S | 0.9014 | likely_pathogenic | 0.8955 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.596512696 | None | None | N |
| G/T | 0.9875 | likely_pathogenic | 0.9861 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/V | 0.9841 | likely_pathogenic | 0.9826 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.652837625 | None | None | N |
| G/W | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.