Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33034 | 99325;99326;99327 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| N2AB | 31393 | 94402;94403;94404 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| N2A | 30466 | 91621;91622;91623 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| N2B | 23969 | 72130;72131;72132 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| Novex-1 | 24094 | 72505;72506;72507 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| Novex-2 | 24161 | 72706;72707;72708 | chr2:178538729;178538728;178538727 | chr2:179403456;179403455;179403454 |
| 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/C | rs397517778  |
-1.512 | 1.0 | N | 0.783 | 0.365 | 0.568143352941 | gnomAD-2.1.1 | 2.42518E-04 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 3.43062E-03 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs397517778 |
-1.512 | 1.0 | N | 0.783 | 0.365 | 0.568143352941 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 2.12028E-03 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| W/C | rs397517778 |
-1.512 | 1.0 | N | 0.783 | 0.365 | 0.568143352941 | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 6E-03 | 0 | None | None | None | 0 | None |
| W/C | rs397517778 |
-1.512 | 1.0 | N | 0.783 | 0.365 | 0.568143352941 | gnomAD-4.0.0 | 6.07289E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.02817E-03 | None | 0 | 0 | 0 | 0 | 1.12039E-04 |
| W/R | None | None | 1.0 | N | 0.812 | 0.511 | 0.697679765967 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| W/S | rs786205365 |
None | 1.0 | N | 0.793 | 0.39 | 0.758254570115 | gnomAD-4.0.0 | 2.7369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79898E-06 | 2.31884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.7514 | likely_pathogenic | 0.8354 | pathogenic | -3.37 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| W/C | 0.8004 | likely_pathogenic | 0.8046 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.497527526 | None | None | N |
| W/D | 0.9618 | likely_pathogenic | 0.9822 | pathogenic | -2.584 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/E | 0.9404 | likely_pathogenic | 0.9692 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/F | 0.3087 | likely_benign | 0.3625 | ambiguous | -2.04 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/G | 0.7492 | likely_pathogenic | 0.8472 | pathogenic | -3.579 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.523308618 | None | None | N |
| W/H | 0.7187 | likely_pathogenic | 0.7864 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/I | 0.6267 | likely_pathogenic | 0.6781 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/K | 0.9518 | likely_pathogenic | 0.9714 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/L | 0.5354 | ambiguous | 0.5894 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.437689789 | None | None | N |
| W/M | 0.7617 | likely_pathogenic | 0.8205 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/N | 0.8913 | likely_pathogenic | 0.9443 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/Q | 0.8914 | likely_pathogenic | 0.9408 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/R | 0.893 | likely_pathogenic | 0.9344 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.466567114 | None | None | N |
| W/S | 0.6133 | likely_pathogenic | 0.7552 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.455062041 | None | None | N |
| W/T | 0.6689 | likely_pathogenic | 0.7644 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/V | 0.601 | likely_pathogenic | 0.6553 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| W/Y | 0.5171 | ambiguous | 0.577 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | 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.