Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27258 | 81997;81998;81999 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| N2AB | 25617 | 77074;77075;77076 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| N2A | 24690 | 74293;74294;74295 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| N2B | 18193 | 54802;54803;54804 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| Novex-1 | 18318 | 55177;55178;55179 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| Novex-2 | 18385 | 55378;55379;55380 | chr2:178564360;178564359;178564358 | chr2:179429087;179429086;179429085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs755629282  |
-0.869 | 1.0 | D | 0.887 | 0.508 | 0.771676275692 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/C | rs755629282 |
-0.869 | 1.0 | D | 0.887 | 0.508 | 0.771676275692 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| S/Y | None | None | 1.0 | D | 0.925 | 0.512 | 0.861820853342 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5215 | ambiguous | 0.4724 | ambiguous | -0.853 | Destabilizing | 0.997 | D | 0.853 | deleterious | D | 0.552369947 | None | None | N |
| S/C | 0.6358 | likely_pathogenic | 0.5877 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.549117944 | None | None | N |
| S/D | 0.9947 | likely_pathogenic | 0.9935 | pathogenic | -1.822 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| S/E | 0.9949 | likely_pathogenic | 0.9937 | pathogenic | -1.705 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| S/F | 0.9967 | likely_pathogenic | 0.9939 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.571830555 | None | None | N |
| S/G | 0.5613 | ambiguous | 0.5146 | ambiguous | -1.178 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| S/H | 0.9944 | likely_pathogenic | 0.9922 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| S/I | 0.9877 | likely_pathogenic | 0.9802 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| S/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| S/L | 0.951 | likely_pathogenic | 0.9212 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/M | 0.9782 | likely_pathogenic | 0.965 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/N | 0.9811 | likely_pathogenic | 0.9725 | pathogenic | -1.387 | Destabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | N |
| S/P | 0.9938 | likely_pathogenic | 0.9912 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.571577066 | None | None | N |
| S/Q | 0.9942 | likely_pathogenic | 0.9927 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| S/R | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| S/T | 0.6434 | likely_pathogenic | 0.5921 | pathogenic | -1.098 | Destabilizing | 0.999 | D | 0.886 | deleterious | D | 0.545822581 | None | None | N |
| S/V | 0.9639 | likely_pathogenic | 0.9485 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| S/W | 0.9963 | likely_pathogenic | 0.994 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| S/Y | 0.9949 | likely_pathogenic | 0.9917 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.56022076 | 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.