Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21629 | 65110;65111;65112 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| N2AB | 19988 | 60187;60188;60189 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| N2A | 19061 | 57406;57407;57408 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| N2B | 12564 | 37915;37916;37917 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| Novex-1 | 12689 | 38290;38291;38292 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| Novex-2 | 12756 | 38491;38492;38493 | chr2:178584756;178584755;178584754 | chr2:179449483;179449482;179449481 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.708 | 0.515 | 0.48512917806 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 0 | 0 |
| E/D | rs779232091  |
-0.977 | 0.999 | D | 0.485 | 0.276 | 0.230578612272 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| E/D | rs779232091 |
-0.977 | 0.999 | D | 0.485 | 0.276 | 0.230578612272 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/D | rs779232091 |
-0.977 | 0.999 | D | 0.485 | 0.276 | 0.230578612272 | gnomAD-4.0.0 | 3.84484E-06 | None | None | None | None | N | None | 1.6917E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78842E-06 | 0 | 0 |
| E/K | rs746364765 |
-0.543 | 0.999 | N | 0.615 | 0.396 | 0.430923071578 | gnomAD-2.1.1 | 6.07E-05 | None | None | None | None | N | None | 0 | 4.80769E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs746364765 |
-0.543 | 0.999 | N | 0.615 | 0.396 | 0.430923071578 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 3.27654E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs746364765 |
-0.543 | 0.999 | N | 0.615 | 0.396 | 0.430923071578 | gnomAD-4.0.0 | 1.79749E-05 | None | None | None | None | N | None | 0 | 4.16861E-04 | None | 0 | 6.69105E-05 | None | 0 | 0 | 8.47756E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2149 | likely_benign | 0.2594 | benign | -0.933 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | N | 0.482942581 | None | None | N |
| E/C | 0.8938 | likely_pathogenic | 0.9004 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/D | 0.277 | likely_benign | 0.3379 | benign | -1.336 | Destabilizing | 0.999 | D | 0.485 | neutral | D | 0.523772765 | None | None | N |
| E/F | 0.9054 | likely_pathogenic | 0.9301 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/G | 0.3414 | ambiguous | 0.404 | ambiguous | -1.357 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.494565602 | None | None | N |
| E/H | 0.6663 | likely_pathogenic | 0.7367 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| E/I | 0.513 | ambiguous | 0.5645 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/K | 0.3294 | likely_benign | 0.4039 | ambiguous | -1.003 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.471204201 | None | None | N |
| E/L | 0.6216 | likely_pathogenic | 0.6949 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| E/M | 0.5912 | likely_pathogenic | 0.6538 | pathogenic | 0.817 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| E/N | 0.3878 | ambiguous | 0.4705 | ambiguous | -1.464 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| E/P | 0.5365 | ambiguous | 0.6146 | pathogenic | -0.127 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/Q | 0.1966 | likely_benign | 0.2337 | benign | -1.25 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.477320267 | None | None | N |
| E/R | 0.4987 | ambiguous | 0.5803 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/S | 0.2861 | likely_benign | 0.3395 | benign | -1.893 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| E/T | 0.2692 | likely_benign | 0.3288 | benign | -1.532 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/V | 0.3136 | likely_benign | 0.3653 | ambiguous | -0.127 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.480994024 | None | None | N |
| E/W | 0.9644 | likely_pathogenic | 0.9743 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/Y | 0.8086 | likely_pathogenic | 0.856 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.783 | 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.