Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27008 | 81247;81248;81249 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| N2AB | 25367 | 76324;76325;76326 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| N2A | 24440 | 73543;73544;73545 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| N2B | 17943 | 54052;54053;54054 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| Novex-1 | 18068 | 54427;54428;54429 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| Novex-2 | 18135 | 54628;54629;54630 | chr2:178565110;178565109;178565108 | chr2:179429837;179429836;179429835 |
| 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/D | rs72648211  |
-3.962 | 1.0 | D | 0.891 | 0.886 | 0.924941197671 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| Y/D | rs72648211 |
-3.962 | 1.0 | D | 0.891 | 0.886 | 0.924941197671 | gnomAD-4.0.0 | 3.42162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69875E-06 | 2.32008E-05 | 0 |
| Y/H | None | None | 1.0 | D | 0.819 | 0.858 | 0.715857140732 | gnomAD-4.0.0 | 6.84323E-07 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -3.706 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/C | 0.9417 | likely_pathogenic | 0.9435 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.656512975 | None | None | N |
| Y/D | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -3.962 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.656916584 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.753 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/F | 0.3993 | ambiguous | 0.3869 | ambiguous | -1.4 | Destabilizing | 0.999 | D | 0.667 | neutral | D | 0.553867634 | None | None | N |
| Y/G | 0.9924 | likely_pathogenic | 0.9931 | pathogenic | -4.104 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| Y/H | 0.9836 | likely_pathogenic | 0.9836 | pathogenic | -2.666 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.656512975 | None | None | N |
| Y/I | 0.9759 | likely_pathogenic | 0.9801 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| Y/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/L | 0.946 | likely_pathogenic | 0.9497 | pathogenic | -2.348 | Highly Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9881 | likely_pathogenic | 0.9878 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/N | 0.9782 | likely_pathogenic | 0.9797 | pathogenic | -3.335 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.656916584 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.821 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/Q | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.097 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/R | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/S | 0.9884 | likely_pathogenic | 0.989 | pathogenic | -3.67 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.656916584 | None | None | N |
| Y/T | 0.9951 | likely_pathogenic | 0.9956 | pathogenic | -3.345 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/V | 0.9572 | likely_pathogenic | 0.9647 | pathogenic | -2.821 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/W | 0.9322 | likely_pathogenic | 0.9327 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.804 | 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.