Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17385 | 52378;52379;52380 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| N2AB | 15744 | 47455;47456;47457 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| N2A | 14817 | 44674;44675;44676 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| N2B | 8320 | 25183;25184;25185 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| Novex-1 | 8445 | 25558;25559;25560 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| Novex-2 | 8512 | 25759;25760;25761 | chr2:178608858;178608857;178608856 | chr2:179473585;179473584;179473583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs749493479  |
-0.021 | 1.0 | D | 0.742 | 0.584 | 0.737954416556 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| S/L | rs749493479 |
-0.021 | 1.0 | D | 0.742 | 0.584 | 0.737954416556 | gnomAD-4.0.0 | 3.19139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8664E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1179 | likely_benign | 0.1126 | benign | -0.713 | Destabilizing | 0.997 | D | 0.465 | neutral | N | 0.476633294 | None | None | N |
| S/C | 0.2075 | likely_benign | 0.21 | benign | -0.762 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| S/D | 0.7687 | likely_pathogenic | 0.7871 | pathogenic | -1.018 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| S/E | 0.7536 | likely_pathogenic | 0.7908 | pathogenic | -0.996 | Destabilizing | 0.999 | D | 0.546 | neutral | None | None | None | None | N |
| S/F | 0.3959 | ambiguous | 0.3963 | ambiguous | -0.946 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| S/G | 0.1867 | likely_benign | 0.1679 | benign | -0.958 | Destabilizing | 0.999 | D | 0.49 | neutral | None | None | None | None | N |
| S/H | 0.5247 | ambiguous | 0.5486 | ambiguous | -1.451 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| S/I | 0.5161 | ambiguous | 0.4879 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/K | 0.8892 | likely_pathogenic | 0.91 | pathogenic | -0.713 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| S/L | 0.2645 | likely_benign | 0.2616 | benign | -0.163 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.529264218 | None | None | N |
| S/M | 0.3088 | likely_benign | 0.3133 | benign | 0.085 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| S/N | 0.3194 | likely_benign | 0.3321 | benign | -0.877 | Destabilizing | 0.999 | D | 0.56 | neutral | None | None | None | None | N |
| S/P | 0.9937 | likely_pathogenic | 0.9886 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.540785108 | None | None | N |
| S/Q | 0.6451 | likely_pathogenic | 0.6777 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/R | 0.8379 | likely_pathogenic | 0.8598 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/T | 0.1303 | likely_benign | 0.1296 | benign | -0.792 | Destabilizing | 0.999 | D | 0.49 | neutral | N | 0.520679319 | None | None | N |
| S/V | 0.4107 | ambiguous | 0.3806 | ambiguous | -0.314 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/W | 0.614 | likely_pathogenic | 0.6037 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/Y | 0.366 | ambiguous | 0.3829 | ambiguous | -0.644 | Destabilizing | 1.0 | D | 0.849 | 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.