Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20573 | 61942;61943;61944 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| N2AB | 18932 | 57019;57020;57021 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| N2A | 18005 | 54238;54239;54240 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| N2B | 11508 | 34747;34748;34749 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| Novex-1 | 11633 | 35122;35123;35124 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| Novex-2 | 11700 | 35323;35324;35325 | chr2:178590008;178590007;178590006 | chr2:179454735;179454734;179454733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs780691741  |
-1.522 | 1.0 | N | 0.952 | 0.57 | 0.768492288142 | 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 |
| C/R | rs780691741 |
-1.522 | 1.0 | N | 0.952 | 0.57 | 0.768492288142 | gnomAD-4.0.0 | 2.05336E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69896E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8574 | likely_pathogenic | 0.8699 | pathogenic | -1.663 | Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| C/D | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.948 | deleterious | None | None | None | None | N |
| C/F | 0.9504 | likely_pathogenic | 0.9629 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.939 | deleterious | N | 0.466944104 | None | None | N |
| C/G | 0.9261 | likely_pathogenic | 0.9406 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.925 | deleterious | N | 0.513088838 | None | None | N |
| C/H | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | None | None | N |
| C/I | 0.7615 | likely_pathogenic | 0.7804 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | None | None | N |
| C/L | 0.8708 | likely_pathogenic | 0.8837 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| C/M | 0.9641 | likely_pathogenic | 0.967 | pathogenic | -0.022 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| C/N | 0.9941 | likely_pathogenic | 0.9961 | pathogenic | -1.877 | Destabilizing | 1.0 | D | 0.948 | deleterious | None | None | None | None | N |
| C/P | 0.7719 | likely_pathogenic | 0.7903 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | None | None | N |
| C/Q | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.957 | deleterious | None | None | None | None | N |
| C/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.952 | deleterious | N | 0.466944104 | None | None | N |
| C/S | 0.927 | likely_pathogenic | 0.9446 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.512915479 | None | None | N |
| C/T | 0.9326 | likely_pathogenic | 0.9441 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| C/V | 0.5572 | ambiguous | 0.5814 | pathogenic | -1.068 | Destabilizing | 0.999 | D | 0.854 | deleterious | None | None | None | None | N |
| C/W | 0.9969 | likely_pathogenic | 0.998 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.922 | deleterious | N | 0.467197594 | None | None | N |
| C/Y | 0.9917 | likely_pathogenic | 0.9944 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.95 | deleterious | N | 0.466944104 | 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.