Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21346 | 64261;64262;64263 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| N2AB | 19705 | 59338;59339;59340 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| N2A | 18778 | 56557;56558;56559 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| N2B | 12281 | 37066;37067;37068 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| Novex-1 | 12406 | 37441;37442;37443 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| Novex-2 | 12473 | 37642;37643;37644 | chr2:178587175;178587174;178587173 | chr2:179451902;179451901;179451900 |
| 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 | rs2154181993  |
None | 1.0 | N | 0.798 | 0.456 | 0.444605663662 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.319E-05 | 0 |
| Y/H | rs1321825377 |
0.152 | 1.0 | N | 0.711 | 0.443 | 0.327419511103 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| Y/H | rs1321825377 |
0.152 | 1.0 | N | 0.711 | 0.443 | 0.327419511103 | gnomAD-4.0.0 | 6.84394E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 0 | 0 | 0 |
| Y/N | None | None | 1.0 | N | 0.78 | 0.482 | 0.537730405006 | gnomAD-4.0.0 | 6.84394E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15947E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9219 | likely_pathogenic | 0.9155 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| Y/C | 0.5138 | ambiguous | 0.5162 | ambiguous | 0.067 | Stabilizing | 1.0 | D | 0.798 | deleterious | N | 0.503800138 | None | None | I |
| Y/D | 0.9221 | likely_pathogenic | 0.9052 | pathogenic | 0.873 | Stabilizing | 1.0 | D | 0.782 | deleterious | N | 0.469149831 | None | None | I |
| Y/E | 0.9712 | likely_pathogenic | 0.9688 | pathogenic | 0.849 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| Y/F | 0.0993 | likely_benign | 0.1037 | benign | -0.415 | Destabilizing | 0.999 | D | 0.495 | neutral | N | 0.473189229 | None | None | I |
| Y/G | 0.937 | likely_pathogenic | 0.921 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| Y/H | 0.636 | likely_pathogenic | 0.621 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.506435011 | None | None | I |
| Y/I | 0.6815 | likely_pathogenic | 0.6813 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| Y/K | 0.9673 | likely_pathogenic | 0.964 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| Y/L | 0.7601 | likely_pathogenic | 0.7659 | pathogenic | -0.285 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | None | I |
| Y/M | 0.8175 | likely_pathogenic | 0.8071 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| Y/N | 0.6258 | likely_pathogenic | 0.6018 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.51005132 | None | None | I |
| Y/P | 0.9955 | likely_pathogenic | 0.9947 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| Y/Q | 0.9431 | likely_pathogenic | 0.9413 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| Y/R | 0.9417 | likely_pathogenic | 0.9391 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| Y/S | 0.8605 | likely_pathogenic | 0.8432 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.515419854 | None | None | I |
| Y/T | 0.9183 | likely_pathogenic | 0.9123 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| Y/V | 0.6679 | likely_pathogenic | 0.6543 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| Y/W | 0.6698 | likely_pathogenic | 0.6651 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
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.