Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28551 | 85876;85877;85878 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| N2AB | 26910 | 80953;80954;80955 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| N2A | 25983 | 78172;78173;78174 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| N2B | 19486 | 58681;58682;58683 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| Novex-1 | 19611 | 59056;59057;59058 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| Novex-2 | 19678 | 59257;59258;59259 | chr2:178560481;178560480;178560479 | chr2:179425208;179425207;179425206 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | D | 0.816 | 0.785 | 0.814262575827 | gnomAD-4.0.0 | 1.59255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85958E-06 | 0 | 0 |
| P/T | rs142478636  |
-2.064 | 1.0 | D | 0.821 | 0.669 | None | gnomAD-2.1.1 | 1.97059E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.37407E-03 | None | 6.55E-05 | None | 0 | 4.7E-05 | 1.41323E-04 |
| P/T | rs142478636 |
-2.064 | 1.0 | D | 0.821 | 0.669 | None | gnomAD-3.1.2 | 1.51298E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.28566E-03 | None | 0 | 0 | 4.41E-05 | 2.07814E-04 | 9.56023E-04 |
| P/T | rs142478636 |
-2.064 | 1.0 | D | 0.821 | 0.669 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 4E-03 | 0 | None | None | None | 0 | None |
| P/T | rs142478636 |
-2.064 | 1.0 | D | 0.821 | 0.669 | None | gnomAD-4.0.0 | 1.8163E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.25093E-03 | None | 0 | 0 | 3.13665E-05 | 1.42823E-04 | 1.2809E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4768 | ambiguous | 0.4419 | ambiguous | -1.263 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.640950765 | None | None | N |
| P/C | 0.952 | likely_pathogenic | 0.9362 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/D | 0.9969 | likely_pathogenic | 0.9953 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/E | 0.9892 | likely_pathogenic | 0.986 | pathogenic | -3.166 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/F | 0.9969 | likely_pathogenic | 0.9958 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/G | 0.9618 | likely_pathogenic | 0.945 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.9837 | likely_pathogenic | 0.9791 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/I | 0.9703 | likely_pathogenic | 0.963 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.739 | deleterious | None | None | None | None | N |
| P/K | 0.9939 | likely_pathogenic | 0.9915 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.8618 | likely_pathogenic | 0.8329 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.678732882 | None | None | N |
| P/M | 0.98 | likely_pathogenic | 0.9771 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/N | 0.9936 | likely_pathogenic | 0.9918 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/Q | 0.9725 | likely_pathogenic | 0.9651 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.678934686 | None | None | N |
| P/R | 0.9771 | likely_pathogenic | 0.9695 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.662713521 | None | None | N |
| P/S | 0.8244 | likely_pathogenic | 0.802 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.636973605 | None | None | N |
| P/T | 0.8714 | likely_pathogenic | 0.8473 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.641354373 | None | None | N |
| P/V | 0.9136 | likely_pathogenic | 0.8952 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/Y | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.798 | 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.