Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35702 | 107329;107330;107331 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| N2AB | 34061 | 102406;102407;102408 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| N2A | 33134 | 99625;99626;99627 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| N2B | 26637 | 80134;80135;80136 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| Novex-1 | 26762 | 80509;80510;80511 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| Novex-2 | 26829 | 80710;80711;80712 | chr2:178528647;178528646;178528645 | chr2:179393374;179393373;179393372 |
| 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/A | rs551126367  |
-1.204 | 1.0 | D | 0.821 | 0.878 | 0.651230687639 | gnomAD-2.1.1 | 7.19E-06 | None | None | None | None | N | None | 8.33E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs551126367 |
-1.204 | 1.0 | D | 0.821 | 0.878 | 0.651230687639 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs551126367 |
-1.204 | 1.0 | D | 0.821 | 0.878 | 0.651230687639 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/A | rs551126367 |
-1.204 | 1.0 | D | 0.821 | 0.878 | 0.651230687639 | gnomAD-4.0.0 | 2.62643E-05 | None | None | None | None | N | None | 9.62418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs772957495 |
-0.382 | 1.0 | D | 0.869 | 0.86 | None | gnomAD-2.1.1 | 1.43818E-04 | None | None | None | None | N | None | 4.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.98925E-04 | 1.41323E-04 |
| P/L | rs772957495 |
-0.382 | 1.0 | D | 0.869 | 0.86 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47003E-04 | 0 | 0 |
| P/L | rs772957495 |
-0.382 | 1.0 | D | 0.869 | 0.86 | None | gnomAD-4.0.0 | 2.03995E-04 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.75572E-04 | 0 | 4.80523E-05 |
| P/T | rs551126367 |
-1.529 | 1.0 | D | 0.875 | 0.905 | 0.814869350715 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| P/T | rs551126367 |
-1.529 | 1.0 | D | 0.875 | 0.905 | 0.814869350715 | gnomAD-4.0.0 | 2.05388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.48473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6028 | likely_pathogenic | 0.6395 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.605404597 | None | None | N |
| P/C | 0.9859 | likely_pathogenic | 0.9897 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/D | 0.9956 | likely_pathogenic | 0.9965 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/E | 0.9841 | likely_pathogenic | 0.9874 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/F | 0.9967 | likely_pathogenic | 0.9977 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/G | 0.9756 | likely_pathogenic | 0.9792 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/H | 0.9877 | likely_pathogenic | 0.9914 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/I | 0.9556 | likely_pathogenic | 0.965 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/K | 0.99 | likely_pathogenic | 0.993 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/L | 0.8433 | likely_pathogenic | 0.8735 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.615094791 | None | None | N |
| P/M | 0.9784 | likely_pathogenic | 0.9838 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/N | 0.9933 | likely_pathogenic | 0.9945 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/Q | 0.9726 | likely_pathogenic | 0.9795 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.631548121 | None | None | N |
| P/R | 0.9725 | likely_pathogenic | 0.9798 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.647567482 | None | None | N |
| P/S | 0.9194 | likely_pathogenic | 0.9368 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.609785365 | None | None | N |
| P/T | 0.8808 | likely_pathogenic | 0.9039 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.647365678 | None | None | N |
| P/V | 0.8788 | likely_pathogenic | 0.9004 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/Y | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.873 | 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.