Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29178 | 87757;87758;87759 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| N2AB | 27537 | 82834;82835;82836 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| N2A | 26610 | 80053;80054;80055 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| N2B | 20113 | 60562;60563;60564 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| Novex-1 | 20238 | 60937;60938;60939 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| Novex-2 | 20305 | 61138;61139;61140 | chr2:178557822;178557821;178557820 | chr2:179422549;179422548;179422547 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1214776587  |
-2.338 | 1.0 | N | 0.771 | 0.609 | 0.371157983038 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/G | rs1214776587 |
-2.338 | 1.0 | N | 0.771 | 0.609 | 0.371157983038 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.982 | likely_pathogenic | 0.9875 | pathogenic | -1.963 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| R/C | 0.6715 | likely_pathogenic | 0.7551 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| R/D | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| R/E | 0.9634 | likely_pathogenic | 0.9721 | pathogenic | -0.719 | Destabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| R/F | 0.9925 | likely_pathogenic | 0.9949 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| R/G | 0.9572 | likely_pathogenic | 0.9706 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.51226501 | None | None | N |
| R/H | 0.6618 | likely_pathogenic | 0.7535 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| R/I | 0.9827 | likely_pathogenic | 0.9882 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.523367826 | None | None | N |
| R/K | 0.4077 | ambiguous | 0.5019 | ambiguous | -1.601 | Destabilizing | 0.997 | D | 0.495 | neutral | D | 0.52211654 | None | None | N |
| R/L | 0.9377 | likely_pathogenic | 0.9629 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/M | 0.9471 | likely_pathogenic | 0.9666 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| R/N | 0.9914 | likely_pathogenic | 0.9943 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/P | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| R/Q | 0.4697 | ambiguous | 0.5907 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| R/S | 0.9906 | likely_pathogenic | 0.9936 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.488650119 | None | None | N |
| R/T | 0.9834 | likely_pathogenic | 0.9881 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.501718399 | None | None | N |
| R/V | 0.9803 | likely_pathogenic | 0.9866 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| R/W | 0.8965 | likely_pathogenic | 0.9139 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| R/Y | 0.9637 | likely_pathogenic | 0.9756 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.905 | 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.