Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29336 | 88231;88232;88233 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| N2AB | 27695 | 83308;83309;83310 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| N2A | 26768 | 80527;80528;80529 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| N2B | 20271 | 61036;61037;61038 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| Novex-1 | 20396 | 61411;61412;61413 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| Novex-2 | 20463 | 61612;61613;61614 | chr2:178557256;178557255;178557254 | chr2:179421983;179421982;179421981 |
| 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/G | rs1701872687  |
None | 0.999 | N | 0.827 | 0.591 | 0.637961102299 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8578E-06 | 0 | 0 |
| C/S | rs1328042296 |
None | 0.999 | N | 0.77 | 0.523 | 0.437958778045 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1328042296 |
None | 0.999 | N | 0.77 | 0.523 | 0.437958778045 | gnomAD-4.0.0 | 6.56625E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 0 | 0 |
| C/Y | rs1328042296 |
-0.707 | 0.999 | N | 0.847 | 0.416 | 0.512998934155 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | rs1328042296 |
-0.707 | 0.999 | N | 0.847 | 0.416 | 0.512998934155 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs1328042296 |
-0.707 | 0.999 | N | 0.847 | 0.416 | 0.512998934155 | gnomAD-4.0.0 | 3.84326E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78538E-06 | 0 | 2.84463E-05 |
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 | 0.7684 | likely_pathogenic | 0.7478 | pathogenic | -0.834 | Destabilizing | 0.995 | D | 0.529 | neutral | None | None | None | None | N |
| C/D | 0.9957 | likely_pathogenic | 0.9941 | pathogenic | -1.503 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| C/E | 0.997 | likely_pathogenic | 0.9963 | pathogenic | -1.391 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| C/F | 0.9005 | likely_pathogenic | 0.8451 | pathogenic | -0.836 | Destabilizing | 0.999 | D | 0.847 | deleterious | N | 0.508885379 | None | None | N |
| C/G | 0.7737 | likely_pathogenic | 0.729 | pathogenic | -1.082 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.468272506 | None | None | N |
| C/H | 0.9928 | likely_pathogenic | 0.9895 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| C/I | 0.6344 | likely_pathogenic | 0.5992 | pathogenic | -0.232 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| C/K | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -0.595 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| C/L | 0.7567 | likely_pathogenic | 0.7423 | pathogenic | -0.232 | Destabilizing | 0.998 | D | 0.634 | neutral | None | None | None | None | N |
| C/M | 0.8917 | likely_pathogenic | 0.874 | pathogenic | 0.376 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| C/N | 0.9732 | likely_pathogenic | 0.9649 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| C/P | 0.8034 | likely_pathogenic | 0.8088 | pathogenic | -0.407 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| C/Q | 0.991 | likely_pathogenic | 0.9882 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| C/R | 0.9786 | likely_pathogenic | 0.9753 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.838 | deleterious | N | 0.456916201 | None | None | N |
| C/S | 0.8146 | likely_pathogenic | 0.7738 | pathogenic | -1.037 | Destabilizing | 0.999 | D | 0.77 | deleterious | N | 0.502612767 | None | None | N |
| C/T | 0.8073 | likely_pathogenic | 0.814 | pathogenic | -0.783 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| C/V | 0.4641 | ambiguous | 0.4607 | ambiguous | -0.407 | Destabilizing | 0.998 | D | 0.669 | prob.neutral | None | None | None | None | N |
| C/W | 0.9847 | likely_pathogenic | 0.9757 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.468525996 | None | None | N |
| C/Y | 0.9736 | likely_pathogenic | 0.9567 | pathogenic | -0.875 | Destabilizing | 0.999 | D | 0.847 | deleterious | N | 0.468525996 | 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.