Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32122 | 96589;96590;96591 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| N2AB | 30481 | 91666;91667;91668 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| N2A | 29554 | 88885;88886;88887 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| N2B | 23057 | 69394;69395;69396 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| Novex-1 | 23182 | 69769;69770;69771 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| Novex-2 | 23249 | 69970;69971;69972 | chr2:178543609;178543608;178543607 | chr2:179408336;179408335;179408334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.077 | N | 0.315 | 0.186 | 0.433047596574 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| V/L | None | None | 0.803 | N | 0.634 | 0.218 | 0.451213972277 | gnomAD-4.0.0 | 7.57461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89785E-06 | 0 | 0 |
| V/M | rs745586010  |
-1.067 | 0.999 | N | 0.71 | 0.296 | 0.61225159808 | gnomAD-2.1.1 | 3.74E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.95198E-04 | None | 0 | 0 | 0 |
| V/M | rs745586010 |
-1.067 | 0.999 | N | 0.71 | 0.296 | 0.61225159808 | gnomAD-4.0.0 | 1.23948E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.08826E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2477 | likely_benign | 0.2421 | benign | -2.218 | Highly Destabilizing | 0.077 | N | 0.315 | neutral | N | 0.465841969 | None | None | N |
| V/C | 0.7971 | likely_pathogenic | 0.7977 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/D | 0.9952 | likely_pathogenic | 0.9939 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/E | 0.9887 | likely_pathogenic | 0.985 | pathogenic | -2.583 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.515800637 | None | None | N |
| V/F | 0.8368 | likely_pathogenic | 0.7561 | pathogenic | -1.294 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| V/G | 0.7168 | likely_pathogenic | 0.7156 | pathogenic | -2.856 | Highly Destabilizing | 0.991 | D | 0.793 | deleterious | N | 0.497696382 | None | None | N |
| V/H | 0.996 | likely_pathogenic | 0.9942 | pathogenic | -2.763 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/I | 0.1337 | likely_benign | 0.1136 | benign | -0.373 | Destabilizing | 0.933 | D | 0.547 | neutral | None | None | None | None | N |
| V/K | 0.9934 | likely_pathogenic | 0.9901 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/L | 0.4881 | ambiguous | 0.3973 | ambiguous | -0.373 | Destabilizing | 0.803 | D | 0.634 | neutral | N | 0.468186054 | None | None | N |
| V/M | 0.5056 | ambiguous | 0.3933 | ambiguous | -0.817 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | N | 0.49835982 | None | None | N |
| V/N | 0.9793 | likely_pathogenic | 0.9754 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/P | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Q | 0.9834 | likely_pathogenic | 0.9787 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/R | 0.9851 | likely_pathogenic | 0.9805 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/S | 0.7763 | likely_pathogenic | 0.7599 | pathogenic | -3.011 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| V/T | 0.5954 | likely_pathogenic | 0.5608 | ambiguous | -2.505 | Highly Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/W | 0.9985 | likely_pathogenic | 0.9971 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/Y | 0.9858 | likely_pathogenic | 0.9786 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.801 | 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.