Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4684 | 14275;14276;14277 | chr2:178739183;178739182;178739181 | chr2:179603910;179603909;179603908 |
| N2AB | 4367 | 13324;13325;13326 | chr2:178739183;178739182;178739181 | chr2:179603910;179603909;179603908 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4321 | 13186;13187;13188 | chr2:178739183;178739182;178739181 | chr2:179603910;179603909;179603908 |
| Novex-1 | 4446 | 13561;13562;13563 | chr2:178739183;178739182;178739181 | chr2:179603910;179603909;179603908 |
| Novex-2 | 4513 | 13762;13763;13764 | chr2:178739183;178739182;178739181 | chr2:179603910;179603909;179603908 |
| 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 | rs377579941  |
-0.339 | 0.856 | D | 0.589 | 0.625 | None | gnomAD-2.1.1 | 5.69E-05 | None | None | None | None | I | None | 3.85538E-04 | 0 | None | 0 | 1.17661E-04 | None | 0 | None | 0 | 0 | 1.93798E-04 |
| G/R | rs377579941 |
-0.339 | 0.856 | D | 0.589 | 0.625 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | I | None | 3.13813E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs377579941 |
-0.339 | 0.856 | D | 0.589 | 0.625 | None | gnomAD-4.0.0 | 2.4437E-05 | None | None | None | None | I | None | 3.06646E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14801E-05 | 1.3875E-05 | 1.72016E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3656 | ambiguous | 0.4027 | ambiguous | -0.365 | Destabilizing | 0.984 | D | 0.653 | neutral | D | 0.796237547 | None | None | I |
| G/C | 0.4271 | ambiguous | 0.4682 | ambiguous | -0.824 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.4983 | ambiguous | 0.5564 | ambiguous | -0.718 | Destabilizing | 0.997 | D | 0.804 | deleterious | None | None | None | None | I |
| G/E | 0.4367 | ambiguous | 0.5195 | ambiguous | -0.89 | Destabilizing | 0.991 | D | 0.797 | deleterious | D | 0.776515206 | None | None | I |
| G/F | 0.7905 | likely_pathogenic | 0.8283 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/H | 0.6421 | likely_pathogenic | 0.7098 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/I | 0.6531 | likely_pathogenic | 0.7222 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/K | 0.5478 | ambiguous | 0.6213 | pathogenic | -0.87 | Destabilizing | 0.993 | D | 0.8 | deleterious | None | None | None | None | I |
| G/L | 0.7225 | likely_pathogenic | 0.774 | pathogenic | -0.511 | Destabilizing | 0.997 | D | 0.786 | deleterious | None | None | None | None | I |
| G/M | 0.763 | likely_pathogenic | 0.804 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.5523 | ambiguous | 0.6122 | pathogenic | -0.463 | Destabilizing | 0.997 | D | 0.783 | deleterious | None | None | None | None | I |
| G/P | 0.9714 | likely_pathogenic | 0.978 | pathogenic | -0.429 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.4744 | ambiguous | 0.5459 | ambiguous | -0.787 | Destabilizing | 0.997 | D | 0.816 | deleterious | None | None | None | None | I |
| G/R | 0.3645 | ambiguous | 0.4286 | ambiguous | -0.385 | Destabilizing | 0.856 | D | 0.589 | neutral | D | 0.796286736 | None | None | I |
| G/S | 0.2138 | likely_benign | 0.247 | benign | -0.586 | Destabilizing | 0.997 | D | 0.788 | deleterious | None | None | None | None | I |
| G/T | 0.4564 | ambiguous | 0.5298 | ambiguous | -0.696 | Destabilizing | 0.997 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.5378 | ambiguous | 0.6079 | pathogenic | -0.429 | Destabilizing | 0.996 | D | 0.776 | deleterious | D | 0.795285857 | None | None | I |
| G/W | 0.6132 | likely_pathogenic | 0.6716 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.6839 | likely_pathogenic | 0.7194 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
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.