Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26974 | 81145;81146;81147 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| N2AB | 25333 | 76222;76223;76224 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| N2A | 24406 | 73441;73442;73443 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| N2B | 17909 | 53950;53951;53952 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| Novex-1 | 18034 | 54325;54326;54327 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| Novex-2 | 18101 | 54526;54527;54528 | chr2:178565212;178565211;178565210 | chr2:179429939;179429938;179429937 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1217303445  |
-0.755 | 1.0 | N | 0.835 | 0.57 | 0.577534042849 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1217303445 |
-0.755 | 1.0 | N | 0.835 | 0.57 | 0.577534042849 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1217303445 |
-0.755 | 1.0 | N | 0.835 | 0.57 | 0.577534042849 | gnomAD-4.0.0 | 2.03E-06 | None | None | None | None | N | None | 3.49516E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2348 | likely_benign | 0.2192 | benign | -0.906 | Destabilizing | 0.999 | D | 0.753 | deleterious | N | 0.478419449 | None | None | N |
| G/C | 0.4775 | ambiguous | 0.4074 | ambiguous | -1.219 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| G/D | 0.4822 | ambiguous | 0.4381 | ambiguous | -2.032 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/E | 0.5782 | likely_pathogenic | 0.561 | ambiguous | -2.014 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.522692543 | None | None | N |
| G/F | 0.8353 | likely_pathogenic | 0.8061 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/H | 0.8036 | likely_pathogenic | 0.766 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| G/I | 0.7462 | likely_pathogenic | 0.6733 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/K | 0.8654 | likely_pathogenic | 0.8596 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.6507 | likely_pathogenic | 0.6019 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/M | 0.7549 | likely_pathogenic | 0.7043 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/N | 0.562 | ambiguous | 0.4893 | ambiguous | -1.217 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.9827 | likely_pathogenic | 0.978 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/Q | 0.6941 | likely_pathogenic | 0.6847 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/R | 0.8037 | likely_pathogenic | 0.8029 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.503614049 | None | None | N |
| G/S | 0.1435 | likely_benign | 0.1253 | benign | -1.468 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/T | 0.397 | ambiguous | 0.3414 | ambiguous | -1.377 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.6143 | likely_pathogenic | 0.5506 | ambiguous | -0.484 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.515984312 | None | None | N |
| G/W | 0.8152 | likely_pathogenic | 0.7761 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/Y | 0.7677 | likely_pathogenic | 0.7193 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.767 | 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.