Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33413 | 100462;100463;100464 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| N2AB | 31772 | 95539;95540;95541 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| N2A | 30845 | 92758;92759;92760 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| N2B | 24348 | 73267;73268;73269 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| Novex-1 | 24473 | 73642;73643;73644 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| Novex-2 | 24540 | 73843;73844;73845 | chr2:178536510;178536509;178536508 | chr2:179401237;179401236;179401235 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.897 | 0.888 | 0.923459033944 | gnomAD-4.0.0 | 1.43003E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.84717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9973 | likely_pathogenic | 0.9984 | pathogenic | -3.678 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -2.244 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.661613419 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.936 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -3.828 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/F | 0.7356 | likely_pathogenic | 0.7621 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/G | 0.9868 | likely_pathogenic | 0.9926 | pathogenic | -3.912 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.661613419 | None | None | N |
| W/H | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.763 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/I | 0.9925 | likely_pathogenic | 0.9959 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.037 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/L | 0.9766 | likely_pathogenic | 0.9873 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.644585036 | None | None | N |
| W/M | 0.9956 | likely_pathogenic | 0.9974 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.735 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -3.097 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -3.601 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.608 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.661613419 | None | None | N |
| W/S | 0.996 | likely_pathogenic | 0.9979 | pathogenic | -3.883 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.661613419 | None | None | N |
| W/T | 0.998 | likely_pathogenic | 0.999 | pathogenic | -3.706 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/V | 0.9915 | likely_pathogenic | 0.9955 | pathogenic | -3.097 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/Y | 0.9691 | likely_pathogenic | 0.9736 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.825 | 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.