Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32789 | 98590;98591;98592 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| N2AB | 31148 | 93667;93668;93669 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| N2A | 30221 | 90886;90887;90888 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| N2B | 23724 | 71395;71396;71397 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| Novex-1 | 23849 | 71770;71771;71772 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| Novex-2 | 23916 | 71971;71972;71973 | chr2:178539700;178539699;178539698 | chr2:179404427;179404426;179404425 |
| 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/Q | rs769760458  |
0.101 | 1.0 | N | 0.717 | 0.374 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/Q | rs769760458 |
0.101 | 1.0 | N | 0.717 | 0.374 | None | gnomAD-4.0.0 | 3.18251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71598E-06 | 0 | 0 |
| K/R | rs748701203 |
-0.092 | 0.999 | N | 0.554 | 0.395 | None | gnomAD-2.1.1 | 1.28736E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.2026E-03 | 3.13E-05 | 2.80978E-04 |
| K/R | rs748701203 |
-0.092 | 0.999 | N | 0.554 | 0.395 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.22411E-03 | 0 | 0 | 0 | 4.78011E-04 |
| K/R | rs748701203 |
-0.092 | 0.999 | N | 0.554 | 0.395 | None | gnomAD-4.0.0 | 5.14363E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.12613E-03 | 0 | 3.39042E-06 | 0 | 1.12068E-04 |
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 | 0.4791 | ambiguous | 0.59 | pathogenic | -0.292 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/C | 0.7992 | likely_pathogenic | 0.8517 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/D | 0.5976 | likely_pathogenic | 0.6896 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/E | 0.2895 | likely_benign | 0.3913 | ambiguous | 0.32 | Stabilizing | 0.999 | D | 0.622 | neutral | N | 0.472931018 | None | None | N |
| K/F | 0.8904 | likely_pathogenic | 0.9269 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| K/G | 0.609 | likely_pathogenic | 0.6937 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/H | 0.3282 | likely_benign | 0.3927 | ambiguous | -0.999 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/I | 0.5405 | ambiguous | 0.6191 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/L | 0.5556 | ambiguous | 0.6301 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/M | 0.3819 | ambiguous | 0.4571 | ambiguous | 0.298 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.494495102 | None | None | N |
| K/N | 0.4193 | ambiguous | 0.5228 | ambiguous | 0.081 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.472933805 | None | None | N |
| K/P | 0.64 | likely_pathogenic | 0.7163 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| K/Q | 0.1717 | likely_benign | 0.2263 | benign | -0.115 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.49781082 | None | None | N |
| K/R | 0.1003 | likely_benign | 0.1044 | benign | -0.228 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.49492523 | None | None | N |
| K/S | 0.4754 | ambiguous | 0.5975 | pathogenic | -0.581 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| K/T | 0.2203 | likely_benign | 0.2947 | benign | -0.36 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.479166344 | None | None | N |
| K/V | 0.5105 | ambiguous | 0.5927 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| K/W | 0.8547 | likely_pathogenic | 0.8974 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| K/Y | 0.7552 | likely_pathogenic | 0.8177 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | 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.