Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22739 | 68440;68441;68442 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
N2AB | 21098 | 63517;63518;63519 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
N2A | 20171 | 60736;60737;60738 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
N2B | 13674 | 41245;41246;41247 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
Novex-1 | 13799 | 41620;41621;41622 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
Novex-2 | 13866 | 41821;41822;41823 | chr2:178578815;178578814;178578813 | chr2:179443542;179443541;179443540 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/R | rs1170829810 | -0.118 | 0.938 | N | 0.678 | 0.282 | 0.247872288689 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
H/R | rs1170829810 | -0.118 | 0.938 | N | 0.678 | 0.282 | 0.247872288689 | gnomAD-4.0.0 | 1.6001E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44559E-05 | 0 |
H/Y | rs993803663 | None | 0.007 | N | 0.347 | 0.226 | 0.208816687407 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 0 | 0 | 4.79846E-04 |
H/Y | rs993803663 | None | 0.007 | N | 0.347 | 0.226 | 0.208816687407 | gnomAD-4.0.0 | 8.07374E-06 | None | None | None | None | I | None | 1.33661E-05 | 0 | None | 0 | 0 | None | 0 | 1.49254E-03 | 0 | 0 | 4.81386E-05 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/A | 0.9187 | likely_pathogenic | 0.9252 | pathogenic | 0.589 | Stabilizing | 0.74 | D | 0.576 | neutral | None | None | None | None | I |
H/C | 0.6447 | likely_pathogenic | 0.6869 | pathogenic | 0.915 | Stabilizing | 0.996 | D | 0.838 | deleterious | None | None | None | None | I |
H/D | 0.8605 | likely_pathogenic | 0.7756 | pathogenic | 0.014 | Stabilizing | 0.979 | D | 0.661 | prob.neutral | N | 0.443863613 | None | None | I |
H/E | 0.9441 | likely_pathogenic | 0.942 | pathogenic | 0.029 | Stabilizing | 0.852 | D | 0.68 | prob.neutral | None | None | None | None | I |
H/F | 0.5226 | ambiguous | 0.5972 | pathogenic | 1.171 | Stabilizing | 0.833 | D | 0.651 | prob.neutral | None | None | None | None | I |
H/G | 0.9373 | likely_pathogenic | 0.9343 | pathogenic | 0.329 | Stabilizing | 0.852 | D | 0.516 | neutral | None | None | None | None | I |
H/I | 0.8875 | likely_pathogenic | 0.9014 | pathogenic | 1.239 | Stabilizing | 0.909 | D | 0.77 | deleterious | None | None | None | None | I |
H/K | 0.9463 | likely_pathogenic | 0.9562 | pathogenic | 0.546 | Stabilizing | 0.953 | D | 0.649 | prob.neutral | None | None | None | None | I |
H/L | 0.3919 | ambiguous | 0.4477 | ambiguous | 1.239 | Stabilizing | 0.518 | D | 0.59 | neutral | N | 0.49544444 | None | None | I |
H/M | 0.8721 | likely_pathogenic | 0.8847 | pathogenic | 0.917 | Stabilizing | 0.996 | D | 0.695 | prob.delet. | None | None | None | None | I |
H/N | 0.4978 | ambiguous | 0.4242 | ambiguous | 0.515 | Stabilizing | 0.813 | D | 0.68 | prob.neutral | N | 0.442151459 | None | None | I |
H/P | 0.5164 | ambiguous | 0.6056 | pathogenic | 1.048 | Stabilizing | 0.979 | D | 0.725 | deleterious | N | 0.518302657 | None | None | I |
H/Q | 0.8926 | likely_pathogenic | 0.8971 | pathogenic | 0.591 | Stabilizing | 0.938 | D | 0.667 | prob.neutral | N | 0.507875019 | None | None | I |
H/R | 0.8791 | likely_pathogenic | 0.9142 | pathogenic | -0.054 | Destabilizing | 0.938 | D | 0.678 | prob.neutral | N | 0.507528302 | None | None | I |
H/S | 0.8128 | likely_pathogenic | 0.7631 | pathogenic | 0.663 | Stabilizing | 0.852 | D | 0.653 | prob.neutral | None | None | None | None | I |
H/T | 0.9297 | likely_pathogenic | 0.9236 | pathogenic | 0.774 | Stabilizing | 0.953 | D | 0.591 | neutral | None | None | None | None | I |
H/V | 0.8916 | likely_pathogenic | 0.9118 | pathogenic | 1.048 | Stabilizing | 0.909 | D | 0.629 | neutral | None | None | None | None | I |
H/W | 0.6776 | likely_pathogenic | 0.7303 | pathogenic | 1.088 | Stabilizing | 0.987 | D | 0.713 | prob.delet. | None | None | None | None | I |
H/Y | 0.1737 | likely_benign | 0.2291 | benign | 1.389 | Stabilizing | 0.007 | N | 0.347 | neutral | N | 0.444132972 | 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.