Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5871 | 17836;17837;17838 | chr2:178731054;178731053;178731052 | chr2:179595781;179595780;179595779 |
| N2AB | 5554 | 16885;16886;16887 | chr2:178731054;178731053;178731052 | chr2:179595781;179595780;179595779 |
| N2A | 4627 | 14104;14105;14106 | chr2:178731054;178731053;178731052 | chr2:179595781;179595780;179595779 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs532976769  |
-2.076 | 0.989 | N | 0.598 | 0.545 | 0.775038235288 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| I/T | rs532976769 |
-2.076 | 0.989 | N | 0.598 | 0.545 | 0.775038235288 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs532976769 |
-2.076 | 0.989 | N | 0.598 | 0.545 | 0.775038235288 | gnomAD-4.0.0 | 5.57763E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23015E-05 | None | 0 | 0 | 0 | 8.78368E-05 | 0 |
| I/V | rs1418015513 |
None | 0.333 | N | 0.218 | 0.103 | 0.579790155161 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1418015513 |
None | 0.333 | N | 0.218 | 0.103 | 0.579790155161 | gnomAD-4.0.0 | 3.09869E-06 | None | None | None | None | N | None | 4.00555E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09782E-05 | 1.60123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6628 | likely_pathogenic | 0.8269 | pathogenic | -1.901 | Destabilizing | 0.992 | D | 0.495 | neutral | None | None | None | None | N |
| I/C | 0.7783 | likely_pathogenic | 0.9067 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| I/D | 0.9121 | likely_pathogenic | 0.9687 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| I/E | 0.8202 | likely_pathogenic | 0.913 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| I/F | 0.1581 | likely_benign | 0.2661 | benign | -1.045 | Destabilizing | 0.998 | D | 0.519 | neutral | D | 0.536254565 | None | None | N |
| I/G | 0.8684 | likely_pathogenic | 0.9529 | pathogenic | -2.355 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/H | 0.6942 | likely_pathogenic | 0.8535 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| I/K | 0.6254 | likely_pathogenic | 0.7754 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| I/L | 0.1388 | likely_benign | 0.2192 | benign | -0.664 | Destabilizing | 0.889 | D | 0.385 | neutral | D | 0.524189345 | None | None | N |
| I/M | 0.1124 | likely_benign | 0.1585 | benign | -0.594 | Destabilizing | 0.998 | D | 0.526 | neutral | N | 0.489962425 | None | None | N |
| I/N | 0.511 | ambiguous | 0.7108 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.765 | deleterious | D | 0.524680132 | None | None | N |
| I/P | 0.9246 | likely_pathogenic | 0.9707 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| I/Q | 0.6752 | likely_pathogenic | 0.8173 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| I/R | 0.5324 | ambiguous | 0.7273 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| I/S | 0.6047 | likely_pathogenic | 0.798 | pathogenic | -2.053 | Highly Destabilizing | 0.998 | D | 0.657 | neutral | N | 0.505979993 | None | None | N |
| I/T | 0.5499 | ambiguous | 0.7166 | pathogenic | -1.787 | Destabilizing | 0.989 | D | 0.598 | neutral | N | 0.493952124 | None | None | N |
| I/V | 0.1278 | likely_benign | 0.159 | benign | -1.049 | Destabilizing | 0.333 | N | 0.218 | neutral | N | 0.499789546 | None | None | N |
| I/W | 0.7673 | likely_pathogenic | 0.893 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/Y | 0.4737 | ambiguous | 0.6501 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.636 | neutral | 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.