Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23572 | 70939;70940;70941 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| N2AB | 21931 | 66016;66017;66018 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| N2A | 21004 | 63235;63236;63237 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| N2B | 14507 | 43744;43745;43746 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| Novex-1 | 14632 | 44119;44120;44121 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| Novex-2 | 14699 | 44320;44321;44322 | chr2:178575418;178575417;178575416 | chr2:179440145;179440144;179440143 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs747703704  |
-1.415 | 1.0 | N | 0.697 | 0.449 | 0.241664281697 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14192E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs747703704 |
-1.415 | 1.0 | N | 0.697 | 0.449 | 0.241664281697 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.86548E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs747703704 |
-1.415 | 1.0 | N | 0.697 | 0.449 | 0.241664281697 | gnomAD-4.0.0 | 6.84288E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5105 | ambiguous | 0.4833 | ambiguous | -1.0 | Destabilizing | 1.0 | D | 0.521 | neutral | None | None | None | None | N |
| Q/C | 0.6854 | likely_pathogenic | 0.6619 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Q/D | 0.9637 | likely_pathogenic | 0.9485 | pathogenic | -1.361 | Destabilizing | 0.999 | D | 0.485 | neutral | None | None | None | None | N |
| Q/E | 0.2676 | likely_benign | 0.2261 | benign | -1.217 | Destabilizing | 0.998 | D | 0.371 | neutral | N | 0.510072749 | None | None | N |
| Q/F | 0.909 | likely_pathogenic | 0.885 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Q/G | 0.6515 | likely_pathogenic | 0.615 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| Q/H | 0.6004 | likely_pathogenic | 0.5641 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.485589154 | None | None | N |
| Q/I | 0.7277 | likely_pathogenic | 0.6788 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Q/K | 0.1278 | likely_benign | 0.1178 | benign | -0.326 | Destabilizing | 0.999 | D | 0.465 | neutral | N | 0.446271987 | None | None | N |
| Q/L | 0.2756 | likely_benign | 0.2496 | benign | -0.096 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.519559024 | None | None | N |
| Q/M | 0.5294 | ambiguous | 0.5029 | ambiguous | 0.326 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/N | 0.8292 | likely_pathogenic | 0.7873 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| Q/P | 0.9523 | likely_pathogenic | 0.9307 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.51183371 | None | None | N |
| Q/R | 0.1179 | likely_benign | 0.1111 | benign | -0.285 | Destabilizing | 0.998 | D | 0.452 | neutral | N | 0.423029768 | None | None | N |
| Q/S | 0.6948 | likely_pathogenic | 0.6582 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.459 | neutral | None | None | None | None | N |
| Q/T | 0.6724 | likely_pathogenic | 0.6257 | pathogenic | -0.827 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| Q/V | 0.5433 | ambiguous | 0.4937 | ambiguous | -0.37 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/W | 0.8468 | likely_pathogenic | 0.8069 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| Q/Y | 0.8241 | likely_pathogenic | 0.7821 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | 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.