Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29363 | 88312;88313;88314 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| N2AB | 27722 | 83389;83390;83391 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| N2A | 26795 | 80608;80609;80610 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| N2B | 20298 | 61117;61118;61119 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| Novex-1 | 20423 | 61492;61493;61494 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| Novex-2 | 20490 | 61693;61694;61695 | chr2:178557067;178557066;178557065 | chr2:179421794;179421793;179421792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.995 | N | 0.683 | 0.466 | 0.253726318573 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| G/E | rs1256602941  |
-0.435 | 0.999 | N | 0.861 | 0.547 | 0.526232973257 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/E | rs1256602941 |
-0.435 | 0.999 | N | 0.861 | 0.547 | 0.526232973257 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85834E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8756 | likely_pathogenic | 0.8432 | pathogenic | -0.268 | Destabilizing | 0.995 | D | 0.683 | prob.neutral | N | 0.510683804 | None | None | I |
| G/C | 0.953 | likely_pathogenic | 0.9479 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/D | 0.9918 | likely_pathogenic | 0.9901 | pathogenic | -0.14 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | I |
| G/E | 0.9948 | likely_pathogenic | 0.9934 | pathogenic | -0.296 | Destabilizing | 0.999 | D | 0.861 | deleterious | N | 0.518570616 | None | None | I |
| G/F | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/H | 0.9945 | likely_pathogenic | 0.9934 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/I | 0.9951 | likely_pathogenic | 0.9939 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/K | 0.9941 | likely_pathogenic | 0.9933 | pathogenic | -0.601 | Destabilizing | 0.998 | D | 0.87 | deleterious | None | None | None | None | I |
| G/L | 0.9932 | likely_pathogenic | 0.9919 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | I |
| G/M | 0.9958 | likely_pathogenic | 0.9954 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/N | 0.9871 | likely_pathogenic | 0.9854 | pathogenic | -0.233 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/Q | 0.9915 | likely_pathogenic | 0.9895 | pathogenic | -0.494 | Destabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | I |
| G/R | 0.9783 | likely_pathogenic | 0.9744 | pathogenic | -0.235 | Destabilizing | 0.777 | D | 0.7 | prob.neutral | N | 0.501453866 | None | None | I |
| G/S | 0.8394 | likely_pathogenic | 0.8127 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | I |
| G/T | 0.9792 | likely_pathogenic | 0.9765 | pathogenic | -0.538 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | I |
| G/V | 0.9896 | likely_pathogenic | 0.9872 | pathogenic | -0.296 | Destabilizing | 0.999 | D | 0.868 | deleterious | D | 0.526839503 | None | None | I |
| G/W | 0.9918 | likely_pathogenic | 0.9903 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Y | 0.9937 | likely_pathogenic | 0.9922 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.859 | deleterious | 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.