Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2956 | 9091;9092;9093 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| N2AB | 2956 | 9091;9092;9093 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| N2A | 2956 | 9091;9092;9093 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| N2B | 2910 | 8953;8954;8955 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| Novex-1 | 2910 | 8953;8954;8955 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| Novex-2 | 2910 | 8953;8954;8955 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
| Novex-3 | 2956 | 9091;9092;9093 | chr2:178769715;178769714;178769713 | chr2:179634442;179634441;179634440 |
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/V | None | None | 1.0 | D | 0.786 | 0.899 | 0.920236168323 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.7454 | likely_pathogenic | 0.6504 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.653685945 | None | None | N |
| G/C | 0.9151 | likely_pathogenic | 0.838 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.712002475 | None | None | N |
| G/D | 0.9527 | likely_pathogenic | 0.9061 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.610030058 | None | None | N |
| G/E | 0.9586 | likely_pathogenic | 0.9028 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/F | 0.9904 | likely_pathogenic | 0.9803 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/H | 0.9773 | likely_pathogenic | 0.9585 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/I | 0.9849 | likely_pathogenic | 0.9636 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.9763 | likely_pathogenic | 0.9554 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/L | 0.9757 | likely_pathogenic | 0.9525 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/M | 0.9856 | likely_pathogenic | 0.9692 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.9314 | likely_pathogenic | 0.8897 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/P | 0.9961 | likely_pathogenic | 0.992 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/Q | 0.9399 | likely_pathogenic | 0.8916 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/R | 0.9275 | likely_pathogenic | 0.8683 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.540612264 | None | None | N |
| G/S | 0.5858 | likely_pathogenic | 0.4533 | ambiguous | -0.371 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.545592613 | None | None | N |
| G/T | 0.9414 | likely_pathogenic | 0.8828 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/V | 0.9697 | likely_pathogenic | 0.9315 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.675059722 | None | None | N |
| G/W | 0.9819 | likely_pathogenic | 0.9623 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/Y | 0.9865 | likely_pathogenic | 0.9736 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.747 | 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.