Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31885 | 95878;95879;95880 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| N2AB | 30244 | 90955;90956;90957 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| N2A | 29317 | 88174;88175;88176 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| N2B | 22820 | 68683;68684;68685 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| Novex-1 | 22945 | 69058;69059;69060 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| Novex-2 | 23012 | 69259;69260;69261 | chr2:178545457;178545456;178545455 | chr2:179410184;179410183;179410182 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs72648263  |
-2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/S | rs72648263 |
-2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| A/S | rs72648263 |
-2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-4.0.0 | 1.862E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.29975E-05 | 0 |
| A/T | rs72648263 |
-1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-2.1.1 | 6.92029E-04 | None | None | None | None | N | None | 1.65426E-04 | 2.55247E-04 | None | 3.99066E-03 | 5.13E-05 | None | 6.57E-05 | None | 8.03E-05 | 9.98333E-04 | 9.88142E-04 |
| A/T | rs72648263 |
-1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-3.1.2 | 6.37504E-04 | None | None | None | None | N | None | 1.92994E-04 | 5.23834E-04 | 0 | 4.03691E-03 | 1.92901E-04 | None | 9.43E-05 | 0 | 9.26144E-04 | 0 | 9.58773E-04 |
| A/T | rs72648263 |
-1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-4.0.0 | 1.00292E-03 | None | None | None | None | N | None | 1.86682E-04 | 3.17005E-04 | None | 3.32001E-03 | 4.4617E-05 | None | 9.38057E-05 | 0 | 1.20902E-03 | 4.39986E-05 | 7.85634E-04 |
| A/V | rs1307812044 |
None | 1.0 | D | 0.738 | 0.607 | 0.759727701765 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1307812044 |
None | 1.0 | D | 0.738 | 0.607 | 0.759727701765 | gnomAD-4.0.0 | 6.20499E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.94203E-06 | 0 | 4.80939E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9285 | likely_pathogenic | 0.9351 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.214 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| A/E | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.006 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.576751171 | None | None | N |
| A/F | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.958 | deleterious | None | None | None | None | N |
| A/G | 0.6193 | likely_pathogenic | 0.5751 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.546276653 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| A/I | 0.9901 | likely_pathogenic | 0.9885 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/L | 0.963 | likely_pathogenic | 0.9628 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/M | 0.9837 | likely_pathogenic | 0.9826 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/N | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
| A/P | 0.977 | likely_pathogenic | 0.9935 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.565648356 | None | None | N |
| A/Q | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/R | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/S | 0.5219 | ambiguous | 0.5169 | ambiguous | -2.457 | Highly Destabilizing | 1.0 | D | 0.648 | neutral | D | 0.528119491 | None | None | N |
| A/T | 0.902 | likely_pathogenic | 0.9001 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.555009158 | None | None | N |
| A/V | 0.9222 | likely_pathogenic | 0.9112 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.556783584 | None | None | N |
| A/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/Y | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.957 | 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.