Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16554 | 49885;49886;49887 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| N2AB | 14913 | 44962;44963;44964 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| N2A | 13986 | 42181;42182;42183 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| N2B | 7489 | 22690;22691;22692 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| Novex-1 | 7614 | 23065;23066;23067 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| Novex-2 | 7681 | 23266;23267;23268 | chr2:178613061;178613060;178613059 | chr2:179477788;179477787;179477786 |
| 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/A | rs1169803505  |
-1.927 | 0.122 | N | 0.483 | 0.102 | 0.183819452728 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/A | rs1169803505 |
-1.927 | 0.122 | N | 0.483 | 0.102 | 0.183819452728 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/A | rs1169803505 |
-1.927 | 0.122 | N | 0.483 | 0.102 | 0.183819452728 | gnomAD-4.0.0 | 5.13306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58612E-06 | 0 | 0 |
| P/L | None | None | 0.071 | D | 0.639 | 0.428 | 0.504789117978 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0845 | likely_benign | 0.1004 | benign | -1.883 | Destabilizing | 0.122 | N | 0.483 | neutral | N | 0.450431805 | None | None | N |
| P/C | 0.6734 | likely_pathogenic | 0.7368 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/D | 0.9166 | likely_pathogenic | 0.946 | pathogenic | -2.23 | Highly Destabilizing | 0.996 | D | 0.838 | deleterious | None | None | None | None | N |
| P/E | 0.6817 | likely_pathogenic | 0.7435 | pathogenic | -2.174 | Highly Destabilizing | 0.996 | D | 0.839 | deleterious | None | None | None | None | N |
| P/F | 0.8428 | likely_pathogenic | 0.8661 | pathogenic | -1.4 | Destabilizing | 0.991 | D | 0.88 | deleterious | None | None | None | None | N |
| P/G | 0.5563 | ambiguous | 0.6235 | pathogenic | -2.258 | Highly Destabilizing | 0.942 | D | 0.835 | deleterious | None | None | None | None | N |
| P/H | 0.5171 | ambiguous | 0.6054 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.628408041 | None | None | N |
| P/I | 0.6748 | likely_pathogenic | 0.7017 | pathogenic | -0.911 | Destabilizing | 0.983 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.5665 | likely_pathogenic | 0.6538 | pathogenic | -1.5 | Destabilizing | 0.991 | D | 0.843 | deleterious | None | None | None | None | N |
| P/L | 0.3858 | ambiguous | 0.4089 | ambiguous | -0.911 | Destabilizing | 0.071 | N | 0.639 | neutral | D | 0.627605734 | None | None | N |
| P/M | 0.6341 | likely_pathogenic | 0.6664 | pathogenic | -0.721 | Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
| P/N | 0.7742 | likely_pathogenic | 0.8297 | pathogenic | -1.442 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| P/Q | 0.3549 | ambiguous | 0.4139 | ambiguous | -1.573 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| P/R | 0.415 | ambiguous | 0.5207 | ambiguous | -1.017 | Destabilizing | 0.994 | D | 0.874 | deleterious | D | 0.56175568 | None | None | N |
| P/S | 0.2582 | likely_benign | 0.3275 | benign | -1.974 | Destabilizing | 0.925 | D | 0.824 | deleterious | N | 0.517794064 | None | None | N |
| P/T | 0.3642 | ambiguous | 0.4279 | ambiguous | -1.81 | Destabilizing | 0.961 | D | 0.831 | deleterious | D | 0.573100932 | None | None | N |
| P/V | 0.4902 | ambiguous | 0.5202 | ambiguous | -1.204 | Destabilizing | 0.942 | D | 0.833 | deleterious | None | None | None | None | N |
| P/W | 0.9353 | likely_pathogenic | 0.9556 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.8224 | likely_pathogenic | 0.8623 | pathogenic | -1.404 | Destabilizing | 0.999 | D | 0.886 | 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.