Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20996 | 63211;63212;63213 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| N2AB | 19355 | 58288;58289;58290 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| N2A | 18428 | 55507;55508;55509 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| N2B | 11931 | 36016;36017;36018 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| Novex-1 | 12056 | 36391;36392;36393 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| Novex-2 | 12123 | 36592;36593;36594 | chr2:178588739;178588738;178588737 | chr2:179453466;179453465;179453464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1178872023  |
-0.166 | 1.0 | N | 0.86 | 0.421 | 0.480724696071 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs1178872023 |
-0.166 | 1.0 | N | 0.86 | 0.421 | 0.480724696071 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4334E-05 | 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 | 0.1034 | likely_benign | 0.101 | benign | -0.834 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.490464225 | None | None | N |
| T/C | 0.3601 | ambiguous | 0.3461 | ambiguous | -0.506 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/D | 0.5266 | ambiguous | 0.4937 | ambiguous | -0.179 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| T/E | 0.3795 | ambiguous | 0.3486 | ambiguous | -0.205 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/F | 0.2725 | likely_benign | 0.2492 | benign | -1.032 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| T/G | 0.2755 | likely_benign | 0.2626 | benign | -1.054 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/H | 0.2634 | likely_benign | 0.2455 | benign | -1.379 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/I | 0.1609 | likely_benign | 0.1487 | benign | -0.348 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.506477871 | None | None | N |
| T/K | 0.178 | likely_benign | 0.1622 | benign | -0.689 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/L | 0.0969 | likely_benign | 0.0914 | benign | -0.348 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| T/M | 0.0971 | likely_benign | 0.093 | benign | 0.024 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/N | 0.1491 | likely_benign | 0.1403 | benign | -0.548 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.483071166 | None | None | N |
| T/P | 0.5069 | ambiguous | 0.4653 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.526472152 | None | None | N |
| T/Q | 0.2367 | likely_benign | 0.2218 | benign | -0.795 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| T/R | 0.1649 | likely_benign | 0.1497 | benign | -0.421 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| T/S | 0.1167 | likely_benign | 0.1142 | benign | -0.841 | Destabilizing | 0.999 | D | 0.558 | neutral | N | 0.480926065 | None | None | N |
| T/V | 0.1339 | likely_benign | 0.1282 | benign | -0.48 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| T/W | 0.6144 | likely_pathogenic | 0.5718 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/Y | 0.3456 | ambiguous | 0.3005 | benign | -0.701 | Destabilizing | 1.0 | D | 0.862 | 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.