Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22190 | 66793;66794;66795 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| N2AB | 20549 | 61870;61871;61872 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| N2A | 19622 | 59089;59090;59091 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| N2B | 13125 | 39598;39599;39600 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| Novex-1 | 13250 | 39973;39974;39975 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| Novex-2 | 13317 | 40174;40175;40176 | chr2:178581700;178581699;178581698 | chr2:179446427;179446426;179446425 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs757537780  |
-1.125 | 1.0 | N | 0.879 | 0.566 | 0.653172182626 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 6.55E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| G/R | rs757537780 |
-1.125 | 1.0 | N | 0.879 | 0.566 | 0.653172182626 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs757537780 |
-1.125 | 1.0 | N | 0.879 | 0.566 | 0.653172182626 | gnomAD-4.0.0 | 1.40835E-04 | None | None | None | None | N | None | 8.01732E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.85758E-04 | 0 | 3.20667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8621 | likely_pathogenic | 0.8665 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.486922734 | None | None | N |
| G/C | 0.9665 | likely_pathogenic | 0.9775 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.511409772 | None | None | N |
| G/D | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.515813864 | None | None | N |
| G/E | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/F | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9971 | likely_pathogenic | 0.998 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/I | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/K | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/M | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.9954 | likely_pathogenic | 0.9961 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/Q | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/R | 0.9922 | likely_pathogenic | 0.9946 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.494137983 | None | None | N |
| G/S | 0.8639 | likely_pathogenic | 0.8682 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.479552447 | None | None | N |
| G/T | 0.9884 | likely_pathogenic | 0.9908 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/V | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.547996675 | None | None | N |
| G/W | 0.9949 | likely_pathogenic | 0.997 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/Y | 0.995 | likely_pathogenic | 0.9966 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.857 | 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.