Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32802 | 98629;98630;98631 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| N2AB | 31161 | 93706;93707;93708 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| N2A | 30234 | 90925;90926;90927 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| N2B | 23737 | 71434;71435;71436 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| Novex-1 | 23862 | 71809;71810;71811 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| Novex-2 | 23929 | 72010;72011;72012 | chr2:178539661;178539660;178539659 | chr2:179404388;179404387;179404386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs1165279106  |
-0.407 | 1.0 | N | 0.829 | 0.391 | 0.506613155829 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1165279106 |
-0.407 | 1.0 | N | 0.829 | 0.391 | 0.506613155829 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1165279106 |
-0.407 | 1.0 | N | 0.829 | 0.391 | 0.506613155829 | gnomAD-4.0.0 | 2.56264E-06 | None | None | None | None | N | None | 0 | 1.69503E-05 | None | 0 | 0 | None | 0 | 0 | 2.39286E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1861 | likely_benign | 0.2096 | benign | -0.557 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.494512696 | None | None | N |
| P/C | 0.6758 | likely_pathogenic | 0.6886 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/D | 0.645 | likely_pathogenic | 0.6862 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.4832 | ambiguous | 0.5382 | ambiguous | -0.386 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.6549 | likely_pathogenic | 0.673 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/G | 0.5651 | likely_pathogenic | 0.5885 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/H | 0.3591 | ambiguous | 0.3939 | ambiguous | -0.169 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/I | 0.4558 | ambiguous | 0.4841 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/K | 0.4196 | ambiguous | 0.5026 | ambiguous | -0.547 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.2296 | likely_benign | 0.2544 | benign | -0.272 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.509255454 | None | None | N |
| P/M | 0.495 | ambiguous | 0.5232 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/N | 0.5475 | ambiguous | 0.562 | ambiguous | -0.318 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/Q | 0.3166 | likely_benign | 0.3542 | ambiguous | -0.529 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.496843327 | None | None | N |
| P/R | 0.3099 | likely_benign | 0.3678 | ambiguous | -0.031 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.502514866 | None | None | N |
| P/S | 0.2996 | likely_benign | 0.3218 | benign | -0.709 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.492880081 | None | None | N |
| P/T | 0.2256 | likely_benign | 0.249 | benign | -0.693 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.495019675 | None | None | N |
| P/V | 0.3501 | ambiguous | 0.3729 | ambiguous | -0.332 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/W | 0.8383 | likely_pathogenic | 0.8557 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/Y | 0.6608 | likely_pathogenic | 0.6757 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.827 | 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.