Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30019 | 90280;90281;90282 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
N2AB | 28378 | 85357;85358;85359 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
N2A | 27451 | 82576;82577;82578 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
N2B | 20954 | 63085;63086;63087 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
Novex-1 | 21079 | 63460;63461;63462 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
Novex-2 | 21146 | 63661;63662;63663 | chr2:178552845;178552844;178552843 | chr2:179417572;179417571;179417570 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/R | rs774538632 | -1.066 | 0.966 | N | 0.869 | 0.336 | 0.714032942311 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
C/R | rs774538632 | -1.066 | 0.966 | N | 0.869 | 0.336 | 0.714032942311 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/A | 0.3557 | ambiguous | 0.289 | benign | -1.664 | Destabilizing | 0.016 | N | 0.317 | neutral | None | None | None | None | I |
C/D | 0.8548 | likely_pathogenic | 0.8075 | pathogenic | -0.614 | Destabilizing | 0.974 | D | 0.863 | deleterious | None | None | None | None | I |
C/E | 0.8463 | likely_pathogenic | 0.8054 | pathogenic | -0.484 | Destabilizing | 0.949 | D | 0.865 | deleterious | None | None | None | None | I |
C/F | 0.3214 | likely_benign | 0.2798 | benign | -1.037 | Destabilizing | 0.989 | D | 0.776 | deleterious | N | 0.472121891 | None | None | I |
C/G | 0.2829 | likely_benign | 0.2366 | benign | -1.991 | Destabilizing | 0.666 | D | 0.797 | deleterious | N | 0.475762601 | None | None | I |
C/H | 0.6561 | likely_pathogenic | 0.5941 | pathogenic | -2.125 | Highly Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | I |
C/I | 0.5161 | ambiguous | 0.4657 | ambiguous | -0.818 | Destabilizing | 0.949 | D | 0.723 | deleterious | None | None | None | None | I |
C/K | 0.8401 | likely_pathogenic | 0.7925 | pathogenic | -0.974 | Destabilizing | 0.949 | D | 0.836 | deleterious | None | None | None | None | I |
C/L | 0.5366 | ambiguous | 0.486 | ambiguous | -0.818 | Destabilizing | 0.841 | D | 0.643 | neutral | None | None | None | None | I |
C/M | 0.6463 | likely_pathogenic | 0.6026 | pathogenic | -0.031 | Destabilizing | 0.998 | D | 0.668 | prob.neutral | None | None | None | None | I |
C/N | 0.6766 | likely_pathogenic | 0.6295 | pathogenic | -1.056 | Destabilizing | 0.974 | D | 0.875 | deleterious | None | None | None | None | I |
C/P | 0.9884 | likely_pathogenic | 0.9838 | pathogenic | -1.074 | Destabilizing | 0.974 | D | 0.872 | deleterious | None | None | None | None | I |
C/Q | 0.6395 | likely_pathogenic | 0.5702 | pathogenic | -0.908 | Destabilizing | 0.974 | D | 0.863 | deleterious | None | None | None | None | I |
C/R | 0.4725 | ambiguous | 0.4138 | ambiguous | -0.994 | Destabilizing | 0.966 | D | 0.869 | deleterious | N | 0.473685088 | None | None | I |
C/S | 0.3134 | likely_benign | 0.2646 | benign | -1.553 | Destabilizing | 0.666 | D | 0.683 | prob.neutral | N | 0.36637033 | None | None | I |
C/T | 0.458 | ambiguous | 0.4018 | ambiguous | -1.235 | Destabilizing | 0.841 | D | 0.717 | prob.delet. | None | None | None | None | I |
C/V | 0.4004 | ambiguous | 0.3626 | ambiguous | -1.074 | Destabilizing | 0.725 | D | 0.683 | prob.neutral | None | None | None | None | I |
C/W | 0.6621 | likely_pathogenic | 0.6215 | pathogenic | -1.113 | Destabilizing | 0.997 | D | 0.786 | deleterious | N | 0.472375381 | None | None | I |
C/Y | 0.4356 | ambiguous | 0.3998 | ambiguous | -1.04 | Destabilizing | 0.989 | D | 0.787 | deleterious | N | 0.460765586 | 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.