Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2963 | 9112;9113;9114 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| N2AB | 2963 | 9112;9113;9114 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| N2A | 2963 | 9112;9113;9114 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| N2B | 2917 | 8974;8975;8976 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| Novex-1 | 2917 | 8974;8975;8976 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| Novex-2 | 2917 | 8974;8975;8976 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
| Novex-3 | 2963 | 9112;9113;9114 | chr2:178769694;178769693;178769692 | chr2:179634421;179634420;179634419 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.54 | 0.451 | 0.39162414616 | gnomAD-4.0.0 | 6.93105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04123E-07 | 0 | 0 |
| T/I | rs1442214623  |
-0.187 | 1.0 | D | 0.853 | 0.591 | 0.702589341736 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| T/I | rs1442214623 |
-0.187 | 1.0 | D | 0.853 | 0.591 | 0.702589341736 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85842E-06 | 0 | 0 |
| T/P | rs200875815 |
-0.773 | 1.0 | D | 0.844 | 0.705 | None | 1000 genomes | 2.15455E-01 | None | None | None | None | N | None | 2.776E-01 | 2.233E-01 | None | None | 1.25E-01 | 1.541E-01 | None | None | None | 2.822E-01 | None |
| T/S | None | None | 0.999 | N | 0.531 | 0.375 | 0.394990421082 | gnomAD-4.0.0 | 6.93105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1 | likely_benign | 0.0957 | benign | -1.261 | Destabilizing | 0.999 | D | 0.54 | neutral | N | 0.513802283 | None | None | N |
| T/C | 0.4803 | ambiguous | 0.5053 | ambiguous | -0.842 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/D | 0.4633 | ambiguous | 0.4793 | ambiguous | -0.498 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/E | 0.3575 | ambiguous | 0.3555 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/F | 0.2593 | likely_benign | 0.2712 | benign | -1.182 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/G | 0.3843 | ambiguous | 0.3859 | ambiguous | -1.604 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/H | 0.2172 | likely_benign | 0.2314 | benign | -1.728 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| T/I | 0.158 | likely_benign | 0.1707 | benign | -0.398 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.565704155 | None | None | N |
| T/K | 0.1413 | likely_benign | 0.1445 | benign | -0.543 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/L | 0.116 | likely_benign | 0.1201 | benign | -0.398 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/M | 0.0941 | likely_benign | 0.0951 | benign | -0.221 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/N | 0.1201 | likely_benign | 0.1318 | benign | -0.842 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.50963263 | None | None | N |
| T/P | 0.2845 | likely_benign | 0.2518 | benign | -0.654 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.585487207 | None | None | N |
| T/Q | 0.2039 | likely_benign | 0.2047 | benign | -0.844 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| T/R | 0.1335 | likely_benign | 0.131 | benign | -0.515 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/S | 0.1211 | likely_benign | 0.1269 | benign | -1.232 | Destabilizing | 0.999 | D | 0.531 | neutral | N | 0.500315155 | None | None | N |
| T/V | 0.1337 | likely_benign | 0.139 | benign | -0.654 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| T/W | 0.6723 | likely_pathogenic | 0.6785 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/Y | 0.3157 | likely_benign | 0.3352 | benign | -0.818 | Destabilizing | 1.0 | D | 0.842 | 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.