Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23146 | 69661;69662;69663 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| N2AB | 21505 | 64738;64739;64740 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| N2A | 20578 | 61957;61958;61959 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| N2B | 14081 | 42466;42467;42468 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| Novex-1 | 14206 | 42841;42842;42843 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| Novex-2 | 14273 | 43042;43043;43044 | chr2:178576808;178576807;178576806 | chr2:179441535;179441534;179441533 |
| 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/L | rs1203533684  |
None | 1.0 | N | 0.865 | 0.412 | 0.397391247328 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 3.885E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1203533684 |
None | 1.0 | N | 0.865 | 0.412 | 0.397391247328 | gnomAD-4.0.0 | 2.23244E-05 | None | None | None | None | N | None | 1.33761E-05 | 0 | None | 0 | 7.81599E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.878 | 0.454 | 0.562316820711 | gnomAD-4.0.0 | 6.84632E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6146 | likely_pathogenic | 0.633 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.502399508 | None | None | N |
| P/C | 0.9442 | likely_pathogenic | 0.9457 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/D | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/E | 0.9943 | likely_pathogenic | 0.9937 | pathogenic | -2.554 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/F | 0.9944 | likely_pathogenic | 0.9931 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/G | 0.9713 | likely_pathogenic | 0.9724 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/H | 0.9949 | likely_pathogenic | 0.9944 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/I | 0.703 | likely_pathogenic | 0.6734 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/K | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/L | 0.4589 | ambiguous | 0.4445 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.493996071 | None | None | N |
| P/M | 0.8728 | likely_pathogenic | 0.8649 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/N | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/Q | 0.9888 | likely_pathogenic | 0.9878 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.541432401 | None | None | N |
| P/R | 0.9912 | likely_pathogenic | 0.9904 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.529911512 | None | None | N |
| P/S | 0.9704 | likely_pathogenic | 0.9716 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.529658022 | None | None | N |
| P/T | 0.8364 | likely_pathogenic | 0.8446 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.540925422 | None | None | N |
| P/V | 0.516 | ambiguous | 0.5112 | ambiguous | -1.218 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/W | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/Y | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.879 | 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.