Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14924 | 44995;44996;44997 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| N2AB | 13283 | 40072;40073;40074 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| N2A | 12356 | 37291;37292;37293 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| N2B | 5859 | 17800;17801;17802 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| Novex-1 | 5984 | 18175;18176;18177 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| Novex-2 | 6051 | 18376;18377;18378 | chr2:178624510;178624509;178624508 | chr2:179489237;179489236;179489235 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | 1.0 | D | 0.888 | 0.573 | 0.572071643794 | gnomAD-4.0.0 | 1.59369E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8631E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8828 | likely_pathogenic | 0.9215 | pathogenic | -1.486 | Destabilizing | 0.998 | D | 0.676 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9996 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/F | 0.889 | likely_pathogenic | 0.9388 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.490568907 | disulfide | None | N |
| C/G | 0.8774 | likely_pathogenic | 0.9251 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.648061214 | disulfide | None | N |
| C/H | 0.9967 | likely_pathogenic | 0.9986 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8856 | likely_pathogenic | 0.9406 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9998 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8718 | likely_pathogenic | 0.9272 | pathogenic | -0.508 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9527 | likely_pathogenic | 0.9737 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9946 | likely_pathogenic | 0.9979 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9979 | likely_pathogenic | 0.9992 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9917 | likely_pathogenic | 0.9963 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.648061214 | disulfide | None | N |
| C/S | 0.9485 | likely_pathogenic | 0.9721 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.648061214 | disulfide | None | N |
| C/T | 0.9577 | likely_pathogenic | 0.9778 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7504 | likely_pathogenic | 0.8246 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9888 | likely_pathogenic | 0.995 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.648061214 | disulfide | None | N |
| C/Y | 0.9798 | likely_pathogenic | 0.9915 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.552400866 | disulfide | 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.