Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23323 | 70192;70193;70194 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| N2AB | 21682 | 65269;65270;65271 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| N2A | 20755 | 62488;62489;62490 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| N2B | 14258 | 42997;42998;42999 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| Novex-1 | 14383 | 43372;43373;43374 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| Novex-2 | 14450 | 43573;43574;43575 | chr2:178576165;178576164;178576163 | chr2:179440892;179440891;179440890 |
| 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/D | None | None | 1.0 | D | 0.924 | 0.761 | 0.516381326315 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.925 | 0.778 | 0.823826922456 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | rs1710012018  |
None | 1.0 | D | 0.863 | 0.741 | 0.46017455471 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.6957 | likely_pathogenic | 0.686 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.550693971 | None | None | I |
| G/C | 0.8586 | likely_pathogenic | 0.839 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.563317724 | None | None | I |
| G/D | 0.8898 | likely_pathogenic | 0.8805 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.538666103 | None | None | I |
| G/E | 0.9227 | likely_pathogenic | 0.9145 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/F | 0.983 | likely_pathogenic | 0.9801 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/H | 0.9615 | likely_pathogenic | 0.9528 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/I | 0.9757 | likely_pathogenic | 0.9735 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/K | 0.9474 | likely_pathogenic | 0.935 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.97 | likely_pathogenic | 0.9653 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/M | 0.9756 | likely_pathogenic | 0.9705 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/N | 0.9342 | likely_pathogenic | 0.9249 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/Q | 0.9311 | likely_pathogenic | 0.9171 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/R | 0.891 | likely_pathogenic | 0.8672 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.562303766 | None | None | I |
| G/S | 0.5746 | likely_pathogenic | 0.5574 | ambiguous | -0.903 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.543439043 | None | None | I |
| G/T | 0.8831 | likely_pathogenic | 0.8762 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/V | 0.9379 | likely_pathogenic | 0.9332 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.53605921 | None | None | I |
| G/W | 0.9693 | likely_pathogenic | 0.9662 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/Y | 0.9687 | likely_pathogenic | 0.9652 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.9 | 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.