Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1626 | 5101;5102;5103 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| N2AB | 1626 | 5101;5102;5103 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| N2A | 1626 | 5101;5102;5103 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| N2B | 1580 | 4963;4964;4965 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| Novex-1 | 1580 | 4963;4964;4965 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| Novex-2 | 1580 | 4963;4964;4965 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
| Novex-3 | 1626 | 5101;5102;5103 | chr2:178776988;178776987;178776986 | chr2:179641715;179641714;179641713 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1295070292  |
None | 0.01 | D | 0.583 | 0.199 | 0.137902524267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1295070292 |
None | 0.01 | D | 0.583 | 0.199 | 0.137902524267 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.581 | D | 0.821 | 0.494 | 0.32306181527 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99306E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8214 | likely_pathogenic | 0.7475 | pathogenic | -0.847 | Destabilizing | 0.98 | D | 0.847 | deleterious | None | None | None | None | N |
| A/D | 0.9532 | likely_pathogenic | 0.9122 | pathogenic | -1.86 | Destabilizing | 0.709 | D | 0.861 | deleterious | N | 0.477457912 | None | None | N |
| A/E | 0.9675 | likely_pathogenic | 0.9418 | pathogenic | -1.774 | Destabilizing | 0.764 | D | 0.863 | deleterious | None | None | None | None | N |
| A/F | 0.9489 | likely_pathogenic | 0.9166 | pathogenic | -0.918 | Destabilizing | 0.929 | D | 0.865 | deleterious | None | None | None | None | N |
| A/G | 0.253 | likely_benign | 0.2042 | benign | -1.355 | Destabilizing | 0.41 | N | 0.796 | deleterious | N | 0.343071019 | None | None | N |
| A/H | 0.9691 | likely_pathogenic | 0.9509 | pathogenic | -1.774 | Destabilizing | 0.98 | D | 0.839 | deleterious | None | None | None | None | N |
| A/I | 0.9651 | likely_pathogenic | 0.9307 | pathogenic | -0.06 | Destabilizing | 0.866 | D | 0.866 | deleterious | None | None | None | None | N |
| A/K | 0.9921 | likely_pathogenic | 0.9853 | pathogenic | -1.077 | Destabilizing | 0.764 | D | 0.864 | deleterious | None | None | None | None | N |
| A/L | 0.8718 | likely_pathogenic | 0.8088 | pathogenic | -0.06 | Destabilizing | 0.648 | D | 0.829 | deleterious | None | None | None | None | N |
| A/M | 0.904 | likely_pathogenic | 0.8405 | pathogenic | -0.028 | Destabilizing | 0.993 | D | 0.83 | deleterious | None | None | None | None | N |
| A/N | 0.9072 | likely_pathogenic | 0.8559 | pathogenic | -1.067 | Destabilizing | 0.764 | D | 0.873 | deleterious | None | None | None | None | N |
| A/P | 0.9948 | likely_pathogenic | 0.991 | pathogenic | -0.326 | Destabilizing | 0.83 | D | 0.865 | deleterious | D | 0.593540901 | None | None | N |
| A/Q | 0.9414 | likely_pathogenic | 0.9122 | pathogenic | -1.06 | Destabilizing | 0.866 | D | 0.857 | deleterious | None | None | None | None | N |
| A/R | 0.9703 | likely_pathogenic | 0.9543 | pathogenic | -0.983 | Destabilizing | 0.866 | D | 0.866 | deleterious | None | None | None | None | N |
| A/S | 0.1606 | likely_benign | 0.1323 | benign | -1.439 | Destabilizing | 0.01 | N | 0.583 | neutral | D | 0.52714921 | None | None | N |
| A/T | 0.5813 | likely_pathogenic | 0.4333 | ambiguous | -1.251 | Destabilizing | 0.41 | N | 0.807 | deleterious | D | 0.552066548 | None | None | N |
| A/V | 0.83 | likely_pathogenic | 0.7241 | pathogenic | -0.326 | Destabilizing | 0.581 | D | 0.821 | deleterious | D | 0.592617769 | None | None | N |
| A/W | 0.9961 | likely_pathogenic | 0.9928 | pathogenic | -1.553 | Destabilizing | 0.993 | D | 0.815 | deleterious | None | None | None | None | N |
| A/Y | 0.9778 | likely_pathogenic | 0.9626 | pathogenic | -1.034 | Destabilizing | 0.98 | D | 0.867 | 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.