Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2641 | 8146;8147;8148 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| N2AB | 2641 | 8146;8147;8148 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| N2A | 2641 | 8146;8147;8148 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| N2B | 2595 | 8008;8009;8010 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| Novex-1 | 2595 | 8008;8009;8010 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| Novex-2 | 2595 | 8008;8009;8010 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
| Novex-3 | 2641 | 8146;8147;8148 | chr2:178771406;178771405;178771404 | chr2:179636133;179636132;179636131 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs762210511  |
-1.606 | 1.0 | D | 0.913 | 0.645 | 0.505885190548 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/R | rs762210511 |
-1.606 | 1.0 | D | 0.913 | 0.645 | 0.505885190548 | gnomAD-4.0.0 | 1.59087E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7976 | likely_pathogenic | 0.7821 | pathogenic | -1.446 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| C/D | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/E | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| C/F | 0.9061 | likely_pathogenic | 0.8829 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.601934555 | None | None | N |
| C/G | 0.6637 | likely_pathogenic | 0.6073 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.601245294 | None | None | N |
| C/H | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| C/I | 0.8749 | likely_pathogenic | 0.8578 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/L | 0.8671 | likely_pathogenic | 0.8533 | pathogenic | -0.629 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| C/M | 0.9318 | likely_pathogenic | 0.922 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| C/N | 0.9906 | likely_pathogenic | 0.9875 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| C/Q | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| C/R | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.602106946 | None | None | N |
| C/S | 0.9019 | likely_pathogenic | 0.8786 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.54456452 | None | None | N |
| C/T | 0.8667 | likely_pathogenic | 0.8608 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| C/V | 0.7311 | likely_pathogenic | 0.7114 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| C/W | 0.9931 | likely_pathogenic | 0.9893 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.602106946 | None | None | N |
| C/Y | 0.9792 | likely_pathogenic | 0.969 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.602106946 | 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.