Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15888 | 47887;47888;47889 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| N2AB | 14247 | 42964;42965;42966 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| N2A | 13320 | 40183;40184;40185 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| N2B | 6823 | 20692;20693;20694 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| Novex-1 | 6948 | 21067;21068;21069 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| Novex-2 | 7015 | 21268;21269;21270 | chr2:178617423;178617422;178617421 | chr2:179482150;179482149;179482148 |
| 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 | rs566975986  |
-0.099 | 1.0 | D | 0.819 | 0.424 | 0.527660502957 | gnomAD-2.1.1 | 2.67E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.98067E-04 | None | 0 | 0 | 1.81028E-04 |
| G/R | rs566975986 |
-0.099 | 1.0 | D | 0.819 | 0.424 | 0.527660502957 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07211E-04 | 0 |
| G/R | rs566975986 |
-0.099 | 1.0 | D | 0.819 | 0.424 | 0.527660502957 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/R | rs566975986 |
-0.099 | 1.0 | D | 0.819 | 0.424 | 0.527660502957 | gnomAD-4.0.0 | 7.53013E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.25968E-05 | None | 0 | 0 | 8.52213E-07 | 6.97853E-05 | 6.48277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6803 | likely_pathogenic | 0.7486 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.534194752 | None | None | I |
| G/C | 0.7506 | likely_pathogenic | 0.8144 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/D | 0.8209 | likely_pathogenic | 0.8201 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/E | 0.8855 | likely_pathogenic | 0.8984 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.638263132 | None | None | I |
| G/F | 0.9515 | likely_pathogenic | 0.9626 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.8977 | likely_pathogenic | 0.9158 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/I | 0.9395 | likely_pathogenic | 0.9574 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/K | 0.8732 | likely_pathogenic | 0.89 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/L | 0.9239 | likely_pathogenic | 0.9412 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9462 | likely_pathogenic | 0.9618 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.8067 | likely_pathogenic | 0.8216 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/P | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Q | 0.8516 | likely_pathogenic | 0.8718 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/R | 0.7664 | likely_pathogenic | 0.7944 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.578653203 | None | None | I |
| G/S | 0.5128 | ambiguous | 0.5674 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| G/T | 0.8682 | likely_pathogenic | 0.8968 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.9092 | likely_pathogenic | 0.9369 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.693902665 | None | None | I |
| G/W | 0.935 | likely_pathogenic | 0.951 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Y | 0.9148 | likely_pathogenic | 0.9347 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.788 | 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.