Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29511 | 88756;88757;88758 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| N2AB | 27870 | 83833;83834;83835 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| N2A | 26943 | 81052;81053;81054 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| N2B | 20446 | 61561;61562;61563 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| Novex-1 | 20571 | 61936;61937;61938 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| Novex-2 | 20638 | 62137;62138;62139 | chr2:178554928;178554927;178554926 | chr2:179419655;179419654;179419653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.879 | 0.872 | 0.823000266687 | gnomAD-4.0.0 | 7.95672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57363E-06 | 2.86541E-05 | 0 |
| Y/H | rs541353288  |
-2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| Y/H | rs541353288 |
-2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| Y/H | rs541353288 |
-2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/H | rs541353288 |
-2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-4.0.0 | 3.84273E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02059E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9939 | likely_pathogenic | 0.9943 | pathogenic | -2.354 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| Y/C | 0.8558 | likely_pathogenic | 0.8553 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.613491076 | None | None | N |
| Y/D | 0.9958 | likely_pathogenic | 0.9961 | pathogenic | -2.831 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.613491076 | None | None | N |
| Y/E | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/F | 0.1157 | likely_benign | 0.12 | benign | -0.757 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | D | 0.565999122 | None | None | N |
| Y/G | 0.9886 | likely_pathogenic | 0.9888 | pathogenic | -2.817 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/H | 0.9268 | likely_pathogenic | 0.9314 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.613289271 | None | None | N |
| Y/I | 0.9078 | likely_pathogenic | 0.9119 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| Y/K | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/L | 0.849 | likely_pathogenic | 0.8467 | pathogenic | -0.835 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/M | 0.9641 | likely_pathogenic | 0.9656 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.9829 | likely_pathogenic | 0.9834 | pathogenic | -2.871 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.613491076 | None | None | N |
| Y/P | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/Q | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/R | 0.985 | likely_pathogenic | 0.986 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/S | 0.9827 | likely_pathogenic | 0.9837 | pathogenic | -3.255 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.613491076 | None | None | N |
| Y/T | 0.9916 | likely_pathogenic | 0.992 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/V | 0.8851 | likely_pathogenic | 0.8935 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/W | 0.5682 | likely_pathogenic | 0.5771 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.788 | 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.