Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29364 | 88315;88316;88317 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| N2AB | 27723 | 83392;83393;83394 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| N2A | 26796 | 80611;80612;80613 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| N2B | 20299 | 61120;61121;61122 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| Novex-1 | 20424 | 61495;61496;61497 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| Novex-2 | 20491 | 61696;61697;61698 | chr2:178557064;178557063;178557062 | chr2:179421791;179421790;179421789 |
| 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/S | rs183013408  |
-0.107 | 0.997 | N | 0.721 | 0.402 | None | gnomAD-2.1.1 | 3.86092E-04 | None | None | None | None | I | None | 8.27E-05 | 5.94766E-04 | None | 0 | 0 | None | 0 | None | 4E-05 | 6.33585E-04 | 4.21941E-04 |
| G/S | rs183013408 |
-0.107 | 0.997 | N | 0.721 | 0.402 | None | gnomAD-3.1.2 | 3.41683E-04 | None | None | None | None | I | None | 1.4476E-04 | 8.51008E-04 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 4.4093E-04 | 0 | 9.5511E-04 |
| G/S | rs183013408 |
-0.107 | 0.997 | N | 0.721 | 0.402 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 2.9E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/S | rs183013408 |
-0.107 | 0.997 | N | 0.721 | 0.402 | None | gnomAD-4.0.0 | 5.49039E-04 | None | None | None | None | I | None | 1.46577E-04 | 7.9992E-04 | None | 0 | 0 | None | 1.25012E-04 | 0 | 6.7384E-04 | 0 | 3.84123E-04 |
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 | 0.7848 | likely_pathogenic | 0.6299 | pathogenic | -0.232 | Destabilizing | 0.991 | D | 0.527 | neutral | N | 0.501141606 | None | None | I |
| G/C | 0.8469 | likely_pathogenic | 0.733 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.55377253 | None | None | I |
| G/D | 0.9303 | likely_pathogenic | 0.8581 | pathogenic | -0.257 | Destabilizing | 0.999 | D | 0.743 | deleterious | N | 0.493076983 | None | None | I |
| G/E | 0.9566 | likely_pathogenic | 0.9001 | pathogenic | -0.411 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| G/F | 0.9745 | likely_pathogenic | 0.9497 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/H | 0.9591 | likely_pathogenic | 0.9056 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.958 | likely_pathogenic | 0.9236 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/K | 0.9682 | likely_pathogenic | 0.9218 | pathogenic | -0.627 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | I |
| G/L | 0.9603 | likely_pathogenic | 0.9185 | pathogenic | -0.404 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9708 | likely_pathogenic | 0.9384 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.8899 | likely_pathogenic | 0.7818 | pathogenic | -0.334 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/P | 0.9935 | likely_pathogenic | 0.9885 | pathogenic | -0.317 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Q | 0.9387 | likely_pathogenic | 0.8628 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/R | 0.9191 | likely_pathogenic | 0.8344 | pathogenic | -0.237 | Destabilizing | 0.999 | D | 0.833 | deleterious | N | 0.506915277 | None | None | I |
| G/S | 0.5762 | likely_pathogenic | 0.3994 | ambiguous | -0.523 | Destabilizing | 0.997 | D | 0.721 | prob.delet. | N | 0.496039497 | None | None | I |
| G/T | 0.8942 | likely_pathogenic | 0.8064 | pathogenic | -0.598 | Destabilizing | 0.952 | D | 0.607 | neutral | None | None | None | None | I |
| G/V | 0.9399 | likely_pathogenic | 0.8892 | pathogenic | -0.317 | Destabilizing | 0.997 | D | 0.809 | deleterious | D | 0.541148777 | None | None | I |
| G/W | 0.9643 | likely_pathogenic | 0.936 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Y | 0.9574 | likely_pathogenic | 0.9083 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.825 | 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.