Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15799 | 47620;47621;47622 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| N2AB | 14158 | 42697;42698;42699 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| N2A | 13231 | 39916;39917;39918 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| N2B | 6734 | 20425;20426;20427 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| Novex-1 | 6859 | 20800;20801;20802 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| Novex-2 | 6926 | 21001;21002;21003 | chr2:178617956;178617955;178617954 | chr2:179482683;179482682;179482681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs762148576  |
-0.494 | 0.014 | N | 0.221 | 0.09 | 0.33110744837 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/E | rs762148576 |
-0.494 | 0.014 | N | 0.221 | 0.09 | 0.33110744837 | gnomAD-4.0.0 | 1.59341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86275E-06 | 0 | 0 |
| D/N | rs1364793607 |
-0.761 | 0.032 | N | 0.197 | 0.219 | 0.325533332567 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1364793607 |
-0.761 | 0.032 | N | 0.197 | 0.219 | 0.325533332567 | gnomAD-4.0.0 | 6.58475E-06 | None | None | None | None | N | None | 2.41511E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3922 | ambiguous | 0.3738 | ambiguous | -0.628 | Destabilizing | 0.698 | D | 0.579 | neutral | D | 0.54389393 | None | None | N |
| D/C | 0.7832 | likely_pathogenic | 0.7638 | pathogenic | -0.187 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| D/E | 0.253 | likely_benign | 0.2319 | benign | -0.566 | Destabilizing | 0.014 | N | 0.221 | neutral | N | 0.474730955 | None | None | N |
| D/F | 0.8768 | likely_pathogenic | 0.8625 | pathogenic | -0.073 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| D/G | 0.2937 | likely_benign | 0.3078 | benign | -1.052 | Destabilizing | 0.698 | D | 0.563 | neutral | D | 0.524876151 | None | None | N |
| D/H | 0.4734 | ambiguous | 0.4312 | ambiguous | -0.349 | Destabilizing | 0.992 | D | 0.762 | deleterious | D | 0.60177962 | None | None | N |
| D/I | 0.793 | likely_pathogenic | 0.7471 | pathogenic | 0.525 | Stabilizing | 0.978 | D | 0.803 | deleterious | None | None | None | None | N |
| D/K | 0.6563 | likely_pathogenic | 0.6028 | pathogenic | -0.379 | Destabilizing | 0.754 | D | 0.635 | neutral | None | None | None | None | N |
| D/L | 0.6524 | likely_pathogenic | 0.6204 | pathogenic | 0.525 | Stabilizing | 0.956 | D | 0.803 | deleterious | None | None | None | None | N |
| D/M | 0.8529 | likely_pathogenic | 0.8312 | pathogenic | 1.097 | Stabilizing | 0.998 | D | 0.756 | deleterious | None | None | None | None | N |
| D/N | 0.1209 | likely_benign | 0.1313 | benign | -0.94 | Destabilizing | 0.032 | N | 0.197 | neutral | N | 0.471152648 | None | None | N |
| D/P | 0.7233 | likely_pathogenic | 0.7834 | pathogenic | 0.166 | Stabilizing | 0.978 | D | 0.797 | deleterious | None | None | None | None | N |
| D/Q | 0.534 | ambiguous | 0.4871 | ambiguous | -0.712 | Destabilizing | 0.915 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/R | 0.6976 | likely_pathogenic | 0.65 | pathogenic | -0.276 | Destabilizing | 0.956 | D | 0.784 | deleterious | None | None | None | None | N |
| D/S | 0.1999 | likely_benign | 0.1983 | benign | -1.346 | Destabilizing | 0.754 | D | 0.492 | neutral | None | None | None | None | N |
| D/T | 0.5224 | ambiguous | 0.5237 | ambiguous | -0.966 | Destabilizing | 0.956 | D | 0.655 | neutral | None | None | None | None | N |
| D/V | 0.6081 | likely_pathogenic | 0.5568 | ambiguous | 0.166 | Stabilizing | 0.942 | D | 0.805 | deleterious | D | 0.561100843 | None | None | N |
| D/W | 0.9512 | likely_pathogenic | 0.9405 | pathogenic | 0.111 | Stabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| D/Y | 0.5234 | ambiguous | 0.4708 | ambiguous | 0.21 | Stabilizing | 0.997 | D | 0.771 | deleterious | D | 0.694054595 | 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.