Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18793 | 56602;56603;56604 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| N2AB | 17152 | 51679;51680;51681 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| N2A | 16225 | 48898;48899;48900 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| N2B | 9728 | 29407;29408;29409 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| Novex-1 | 9853 | 29782;29783;29784 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| Novex-2 | 9920 | 29983;29984;29985 | chr2:178599416;178599415;178599414 | chr2:179464143;179464142;179464141 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | 1.0 | N | 0.715 | 0.264 | 0.28722502521 | gnomAD-4.0.0 | 7.12718E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.21255E-07 | 0 | 0 |
| K/R | rs570125605  |
-0.296 | 0.999 | N | 0.561 | 0.205 | 0.431379191433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs570125605 |
-0.296 | 0.999 | N | 0.561 | 0.205 | 0.431379191433 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| K/R | rs570125605 |
-0.296 | 0.999 | N | 0.561 | 0.205 | 0.431379191433 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94553E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3959 | ambiguous | 0.3815 | ambiguous | -0.25 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/C | 0.5559 | ambiguous | 0.5675 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| K/D | 0.6846 | likely_pathogenic | 0.6365 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| K/E | 0.26 | likely_benign | 0.239 | benign | 0.262 | Stabilizing | 0.999 | D | 0.583 | neutral | N | 0.479155196 | None | None | N |
| K/F | 0.7391 | likely_pathogenic | 0.7466 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| K/G | 0.6117 | likely_pathogenic | 0.5964 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/H | 0.2264 | likely_benign | 0.2328 | benign | -0.78 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/I | 0.2839 | likely_benign | 0.2645 | benign | 0.475 | Stabilizing | 1.0 | D | 0.9 | deleterious | N | 0.516558791 | None | None | N |
| K/L | 0.334 | likely_benign | 0.3246 | benign | 0.475 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/M | 0.2416 | likely_benign | 0.2271 | benign | 0.176 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/N | 0.4732 | ambiguous | 0.4242 | ambiguous | -0.055 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.509747462 | None | None | N |
| K/P | 0.951 | likely_pathogenic | 0.9413 | pathogenic | 0.264 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| K/Q | 0.1273 | likely_benign | 0.1283 | benign | -0.138 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.507552519 | None | None | N |
| K/R | 0.0802 | likely_benign | 0.0832 | benign | -0.252 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.497951601 | None | None | N |
| K/S | 0.4451 | ambiguous | 0.4207 | ambiguous | -0.65 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
| K/T | 0.1565 | likely_benign | 0.1481 | benign | -0.393 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.470957001 | None | None | N |
| K/V | 0.2562 | likely_benign | 0.2503 | benign | 0.264 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| K/W | 0.7572 | likely_pathogenic | 0.7666 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| K/Y | 0.6036 | likely_pathogenic | 0.6003 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.873 | deleterious | 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.