Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27864 | 83815;83816;83817 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| N2AB | 26223 | 78892;78893;78894 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| N2A | 25296 | 76111;76112;76113 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| N2B | 18799 | 56620;56621;56622 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| Novex-1 | 18924 | 56995;56996;56997 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| Novex-2 | 18991 | 57196;57197;57198 | chr2:178562542;178562541;178562540 | chr2:179427269;179427268;179427267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1205644458  |
None | 1.0 | D | 0.847 | 0.678 | 0.745060874288 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1205644458 |
None | 1.0 | D | 0.847 | 0.678 | 0.745060874288 | gnomAD-4.0.0 | 1.24207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69691E-06 | 0 | 0 |
| P/S | rs1553568366 |
None | 1.0 | D | 0.797 | 0.612 | 0.536988229258 | gnomAD-4.0.0 | 1.37161E-06 | None | None | None | None | N | None | 3.00625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0039E-07 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.805 | 0.614 | 0.553833332621 | gnomAD-4.0.0 | 6.85804E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0039E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7145 | likely_pathogenic | 0.8177 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.541265634 | None | None | N |
| P/C | 0.9626 | likely_pathogenic | 0.9784 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -3.458 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9964 | likely_pathogenic | 0.9982 | pathogenic | -3.34 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/F | 0.9972 | likely_pathogenic | 0.9985 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/G | 0.9898 | likely_pathogenic | 0.993 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/H | 0.9938 | likely_pathogenic | 0.9969 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.569031127 | None | None | N |
| P/I | 0.893 | likely_pathogenic | 0.9557 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/K | 0.997 | likely_pathogenic | 0.9985 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/L | 0.8366 | likely_pathogenic | 0.9105 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.536871087 | None | None | N |
| P/M | 0.9751 | likely_pathogenic | 0.9875 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/Q | 0.9899 | likely_pathogenic | 0.9953 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/R | 0.9884 | likely_pathogenic | 0.9937 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.556749769 | None | None | N |
| P/S | 0.9643 | likely_pathogenic | 0.981 | pathogenic | -2.614 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.533783669 | None | None | N |
| P/T | 0.9392 | likely_pathogenic | 0.9738 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.518388439 | None | None | N |
| P/V | 0.8078 | likely_pathogenic | 0.9039 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/Y | 0.9978 | likely_pathogenic | 0.9988 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.866 | 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.