Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28236 | 84931;84932;84933 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| N2AB | 26595 | 80008;80009;80010 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| N2A | 25668 | 77227;77228;77229 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| N2B | 19171 | 57736;57737;57738 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| Novex-1 | 19296 | 58111;58112;58113 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| Novex-2 | 19363 | 58312;58313;58314 | chr2:178561426;178561425;178561424 | chr2:179426153;179426152;179426151 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1553564344  |
None | 1.0 | D | 0.893 | 0.804 | 0.762242372316 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.897 | 0.816 | 0.835143150682 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85816E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8502 | likely_pathogenic | 0.841 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.553656486 | None | None | I |
| G/C | 0.9265 | likely_pathogenic | 0.9266 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/D | 0.9603 | likely_pathogenic | 0.9672 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/E | 0.9759 | likely_pathogenic | 0.9786 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.553656486 | None | None | I |
| G/F | 0.993 | likely_pathogenic | 0.9935 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.9828 | likely_pathogenic | 0.9833 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/I | 0.9927 | likely_pathogenic | 0.9933 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/K | 0.9806 | likely_pathogenic | 0.9803 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/L | 0.9886 | likely_pathogenic | 0.9893 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/M | 0.9921 | likely_pathogenic | 0.9916 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.9653 | likely_pathogenic | 0.9649 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.9694 | likely_pathogenic | 0.9682 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/R | 0.949 | likely_pathogenic | 0.9456 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.565266281 | None | None | I |
| G/S | 0.7188 | likely_pathogenic | 0.7072 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/T | 0.9527 | likely_pathogenic | 0.9469 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/V | 0.9788 | likely_pathogenic | 0.98 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.542642575 | None | None | I |
| G/W | 0.9844 | likely_pathogenic | 0.9852 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Y | 0.9867 | likely_pathogenic | 0.9866 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
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.