Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21301 | 64126;64127;64128 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| N2AB | 19660 | 59203;59204;59205 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| N2A | 18733 | 56422;56423;56424 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| N2B | 12236 | 36931;36932;36933 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| Novex-1 | 12361 | 37306;37307;37308 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| Novex-2 | 12428 | 37507;37508;37509 | chr2:178587310;178587309;178587308 | chr2:179452037;179452036;179452035 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.882 | 0.852 | 0.855914337058 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| Y/F | rs1211406312  |
-1.488 | 0.999 | D | 0.633 | 0.74 | 0.717345707198 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/F | rs1211406312 |
-1.488 | 0.999 | D | 0.633 | 0.74 | 0.717345707198 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 2.28854E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs2049236578 |
None | 1.0 | D | 0.795 | 0.858 | 0.73033700423 | gnomAD-4.0.0 | 1.59296E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76963E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9957 | likely_pathogenic | 0.9958 | pathogenic | -3.652 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/C | 0.8455 | likely_pathogenic | 0.86 | pathogenic | -2.031 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.647922883 | None | None | N |
| Y/D | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -3.891 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.648326492 | None | None | N |
| Y/E | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.693 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/F | 0.1634 | likely_benign | 0.1878 | benign | -1.567 | Destabilizing | 0.999 | D | 0.633 | neutral | D | 0.546902694 | None | None | N |
| Y/G | 0.9885 | likely_pathogenic | 0.9873 | pathogenic | -4.013 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| Y/H | 0.9483 | likely_pathogenic | 0.951 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.631671358 | None | None | N |
| Y/I | 0.9764 | likely_pathogenic | 0.9796 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/L | 0.9502 | likely_pathogenic | 0.9502 | pathogenic | -2.407 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| Y/M | 0.9822 | likely_pathogenic | 0.9843 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/N | 0.9763 | likely_pathogenic | 0.9765 | pathogenic | -3.387 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.648326492 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.842 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| Y/Q | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -3.158 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/R | 0.9936 | likely_pathogenic | 0.9934 | pathogenic | -2.367 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/S | 0.9821 | likely_pathogenic | 0.9813 | pathogenic | -3.663 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.632074966 | None | None | N |
| Y/T | 0.9946 | likely_pathogenic | 0.9943 | pathogenic | -3.362 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/V | 0.9568 | likely_pathogenic | 0.9613 | pathogenic | -2.842 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| Y/W | 0.8235 | likely_pathogenic | 0.8229 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.785 | 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.