Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22807 | 68644;68645;68646 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| N2AB | 21166 | 63721;63722;63723 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| N2A | 20239 | 60940;60941;60942 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| N2B | 13742 | 41449;41450;41451 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| Novex-1 | 13867 | 41824;41825;41826 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| Novex-2 | 13934 | 42025;42026;42027 | chr2:178578096;178578095;178578094 | chr2:179442823;179442822;179442821 |
| 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/E | None | None | 1.0 | N | 0.718 | 0.564 | 0.453307948783 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| G/R | rs753494082  |
0.011 | 1.0 | N | 0.759 | 0.495 | 0.578910049572 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs753494082 |
0.011 | 1.0 | N | 0.759 | 0.495 | 0.578910049572 | gnomAD-4.0.0 | 6.84419E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99672E-07 | 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 | 0.2216 | likely_benign | 0.2364 | benign | -0.204 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.512157014 | None | None | N |
| G/C | 0.3376 | likely_benign | 0.3644 | ambiguous | -0.859 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/D | 0.3716 | ambiguous | 0.4905 | ambiguous | 0.001 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/E | 0.4609 | ambiguous | 0.5526 | ambiguous | -0.138 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.473528967 | None | None | N |
| G/F | 0.7555 | likely_pathogenic | 0.7912 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/H | 0.5065 | ambiguous | 0.6066 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.6806 | likely_pathogenic | 0.6721 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/K | 0.7021 | likely_pathogenic | 0.8007 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/L | 0.641 | likely_pathogenic | 0.6561 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/M | 0.6312 | likely_pathogenic | 0.6562 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/N | 0.2743 | likely_benign | 0.3224 | benign | -0.26 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/P | 0.9278 | likely_pathogenic | 0.9303 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Q | 0.5023 | ambiguous | 0.5769 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.5563 | ambiguous | 0.6756 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.485912457 | None | None | N |
| G/S | 0.1242 | likely_benign | 0.1376 | benign | -0.497 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/T | 0.2927 | likely_benign | 0.2939 | benign | -0.544 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/V | 0.5161 | ambiguous | 0.5195 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.524273788 | None | None | N |
| G/W | 0.6632 | likely_pathogenic | 0.7551 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6213 | likely_pathogenic | 0.691 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.