Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20993 | 63202;63203;63204 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| N2AB | 19352 | 58279;58280;58281 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| N2A | 18425 | 55498;55499;55500 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| N2B | 11928 | 36007;36008;36009 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| Novex-1 | 12053 | 36382;36383;36384 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| Novex-2 | 12120 | 36583;36584;36585 | chr2:178588748;178588747;178588746 | chr2:179453475;179453474;179453473 |
| 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/N | rs775732427  |
-0.142 | 1.0 | N | 0.785 | 0.261 | 0.210429274316 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs775732427 |
-0.142 | 1.0 | N | 0.785 | 0.261 | 0.210429274316 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs775732427 |
-0.142 | 1.0 | N | 0.785 | 0.261 | 0.210429274316 | gnomAD-4.0.0 | 6.57575E-06 | None | None | None | None | I | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs2049601755 |
None | 1.0 | N | 0.783 | 0.366 | 0.221019684889 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/Q | rs2049601755 |
None | 1.0 | N | 0.783 | 0.366 | 0.221019684889 | gnomAD-4.0.0 | 6.57626E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-05 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.654 | 0.259 | 0.252162846088 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 7.32654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7126 | likely_pathogenic | 0.6501 | pathogenic | -0.142 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | I |
| K/C | 0.6708 | likely_pathogenic | 0.65 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| K/D | 0.956 | likely_pathogenic | 0.9384 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| K/E | 0.6383 | likely_pathogenic | 0.5783 | pathogenic | 0.133 | Stabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.476632179 | None | None | I |
| K/F | 0.9079 | likely_pathogenic | 0.9013 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| K/G | 0.8587 | likely_pathogenic | 0.8182 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| K/H | 0.4308 | ambiguous | 0.4144 | ambiguous | -0.821 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| K/I | 0.7586 | likely_pathogenic | 0.7123 | pathogenic | 0.44 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| K/L | 0.6327 | likely_pathogenic | 0.5956 | pathogenic | 0.44 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| K/M | 0.4904 | ambiguous | 0.4476 | ambiguous | 0.406 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.498933036 | None | None | I |
| K/N | 0.8123 | likely_pathogenic | 0.7707 | pathogenic | 0.171 | Stabilizing | 1.0 | D | 0.785 | deleterious | N | 0.475882818 | None | None | I |
| K/P | 0.9919 | likely_pathogenic | 0.9902 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| K/Q | 0.2842 | likely_benign | 0.2565 | benign | -0.039 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.481365995 | None | None | I |
| K/R | 0.0879 | likely_benign | 0.0834 | benign | -0.158 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.451504448 | None | None | I |
| K/S | 0.7748 | likely_pathogenic | 0.7263 | pathogenic | -0.399 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | I |
| K/T | 0.6039 | likely_pathogenic | 0.5264 | ambiguous | -0.211 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.456219622 | None | None | I |
| K/V | 0.6528 | likely_pathogenic | 0.6012 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| K/W | 0.9092 | likely_pathogenic | 0.8998 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| K/Y | 0.7844 | likely_pathogenic | 0.7682 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.786 | 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.