Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31858 | 95797;95798;95799 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| N2AB | 30217 | 90874;90875;90876 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| N2A | 29290 | 88093;88094;88095 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| N2B | 22793 | 68602;68603;68604 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| Novex-1 | 22918 | 68977;68978;68979 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| Novex-2 | 22985 | 69178;69179;69180 | chr2:178545538;178545537;178545536 | chr2:179410265;179410264;179410263 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs771395028  |
-0.929 | 0.999 | D | 0.517 | 0.474 | 0.290962096972 | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 1.44827E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.43E-05 | 0 |
| N/S | rs771395028 |
-0.929 | 0.999 | D | 0.517 | 0.474 | 0.290962096972 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/S | rs771395028 |
-0.929 | 0.999 | D | 0.517 | 0.474 | 0.290962096972 | gnomAD-4.0.0 | 1.85912E-05 | None | None | None | None | N | None | 2.66951E-05 | 1.0001E-04 | None | 0 | 0 | None | 0 | 0 | 1.78009E-05 | 0 | 1.60128E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.76 | likely_pathogenic | 0.7769 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/C | 0.4702 | ambiguous | 0.4702 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/D | 0.7807 | likely_pathogenic | 0.812 | pathogenic | -1.566 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.492639818 | None | None | N |
| N/E | 0.9518 | likely_pathogenic | 0.9529 | pathogenic | -1.32 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| N/F | 0.9638 | likely_pathogenic | 0.9633 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/G | 0.7193 | likely_pathogenic | 0.7602 | pathogenic | -1.657 | Destabilizing | 0.999 | D | 0.516 | neutral | None | None | None | None | N |
| N/H | 0.5746 | likely_pathogenic | 0.5867 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.480246782 | None | None | N |
| N/I | 0.7267 | likely_pathogenic | 0.7369 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.484993269 | None | None | N |
| N/K | 0.9589 | likely_pathogenic | 0.9673 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.50078012 | None | None | N |
| N/L | 0.6824 | likely_pathogenic | 0.6901 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/M | 0.7958 | likely_pathogenic | 0.7913 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/P | 0.9253 | likely_pathogenic | 0.9534 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/Q | 0.8948 | likely_pathogenic | 0.8914 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| N/R | 0.945 | likely_pathogenic | 0.9521 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| N/S | 0.1848 | likely_benign | 0.1979 | benign | -1.392 | Destabilizing | 0.999 | D | 0.517 | neutral | D | 0.522308541 | None | None | N |
| N/T | 0.3204 | likely_benign | 0.3887 | ambiguous | -0.953 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.517748083 | None | None | N |
| N/V | 0.6721 | likely_pathogenic | 0.6827 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/W | 0.9801 | likely_pathogenic | 0.9809 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/Y | 0.7804 | likely_pathogenic | 0.7878 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.496971912 | 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.