Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29382 | 88369;88370;88371 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| N2AB | 27741 | 83446;83447;83448 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| N2A | 26814 | 80665;80666;80667 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| N2B | 20317 | 61174;61175;61176 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| Novex-1 | 20442 | 61549;61550;61551 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| Novex-2 | 20509 | 61750;61751;61752 | chr2:178557010;178557009;178557008 | chr2:179421737;179421736;179421735 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs937554101  |
None | 1.0 | D | 0.666 | 0.419 | 0.702838024905 | 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 |
| W/C | rs937554101 |
None | 1.0 | D | 0.666 | 0.419 | 0.702838024905 | gnomAD-4.0.0 | 6.19719E-06 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62818E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9946 | likely_pathogenic | 0.9915 | pathogenic | -3.07 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/C | 0.9973 | likely_pathogenic | 0.9955 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.551612348 | None | None | N |
| W/D | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.842 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/F | 0.6405 | likely_pathogenic | 0.6557 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| W/G | 0.9808 | likely_pathogenic | 0.9733 | pathogenic | -3.267 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.539495574 | None | None | N |
| W/H | 0.9935 | likely_pathogenic | 0.9913 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| W/I | 0.9887 | likely_pathogenic | 0.9851 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/L | 0.97 | likely_pathogenic | 0.9593 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.522832896 | None | None | N |
| W/M | 0.9907 | likely_pathogenic | 0.9879 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| W/N | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/P | 0.995 | likely_pathogenic | 0.9912 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.527632289 | None | None | N |
| W/S | 0.9912 | likely_pathogenic | 0.9869 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.507957872 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9934 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/V | 0.9898 | likely_pathogenic | 0.9857 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8889 | likely_pathogenic | 0.8724 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.545 | neutral | 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.