Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13816 | 41671;41672;41673 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| N2AB | 12175 | 36748;36749;36750 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| N2A | 11248 | 33967;33968;33969 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| N2B | 4751 | 14476;14477;14478 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| Novex-1 | 4876 | 14851;14852;14853 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| Novex-2 | 4943 | 15052;15053;15054 | chr2:178636125;178636124;178636123 | chr2:179500852;179500851;179500850 |
| 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/R | None | None | 1.0 | N | 0.754 | 0.382 | 0.229264304666 | gnomAD-4.0.0 | 3.18511E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72023E-06 | 0 | 0 |
| G/S | rs1422135009  |
None | 1.0 | N | 0.687 | 0.425 | 0.17258766438 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1422135009 |
None | 1.0 | N | 0.687 | 0.425 | 0.17258766438 | gnomAD-4.0.0 | 5.12839E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.30959E-05 | None | 0 | 0 | 2.39454E-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 | 0.7329 | likely_pathogenic | 0.7379 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.653 | prob.neutral | N | 0.484602368 | None | None | I |
| G/C | 0.8087 | likely_pathogenic | 0.7922 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.733 | deleterious | D | 0.522511558 | None | None | I |
| G/D | 0.5368 | ambiguous | 0.5447 | ambiguous | -0.773 | Destabilizing | 1.0 | D | 0.685 | prob.delet. | N | 0.36251646 | None | None | I |
| G/E | 0.6809 | likely_pathogenic | 0.6983 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/F | 0.9861 | likely_pathogenic | 0.986 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.848 | likely_pathogenic | 0.8422 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | I |
| G/I | 0.9795 | likely_pathogenic | 0.9762 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.8202 | likely_pathogenic | 0.8116 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | I |
| G/L | 0.9691 | likely_pathogenic | 0.9685 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/M | 0.9648 | likely_pathogenic | 0.9632 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.722 | deleterious | None | None | None | None | I |
| G/N | 0.5001 | ambiguous | 0.4989 | ambiguous | -0.506 | Destabilizing | 0.98 | D | 0.609 | neutral | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/Q | 0.7306 | likely_pathogenic | 0.7204 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/R | 0.7302 | likely_pathogenic | 0.7224 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.427030046 | None | None | I |
| G/S | 0.2893 | likely_benign | 0.2966 | benign | -0.615 | Destabilizing | 1.0 | D | 0.687 | prob.delet. | N | 0.461739137 | None | None | I |
| G/T | 0.83 | likely_pathogenic | 0.8216 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/V | 0.96 | likely_pathogenic | 0.9558 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.522511558 | None | None | I |
| G/W | 0.9586 | likely_pathogenic | 0.9535 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.693 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9576 | likely_pathogenic | 0.9553 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.778 | 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.