Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 4971 | 15136;15137;15138 | chr2:178735535;178735534;178735533 | chr2:179600262;179600261;179600260 |
N2AB | 4654 | 14185;14186;14187 | chr2:178735535;178735534;178735533 | chr2:179600262;179600261;179600260 |
N2A | 3727 | 11404;11405;11406 | chr2:178735535;178735534;178735533 | chr2:179600262;179600261;179600260 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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/G | rs537312655 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-2.1.1 | 3.97851E-04 | None | None | None | None | N | None | 0 | 2.67035E-03 | None | 0 | 0 | None | 0 | None | 0 | 3.26E-05 | 2.11416E-03 |
C/G | rs537312655 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-3.1.2 | 4.13929E-04 | None | None | None | None | N | None | 0 | 3.99424E-03 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
C/G | rs537312655 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-4.0.0 | 1.16669E-04 | None | None | None | None | N | None | 0 | 2.8678E-03 | None | 0 | 0 | None | 0 | 0 | 1.19448E-05 | 0 | 1.46294E-04 |
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 | 0.1217 | likely_benign | 0.1586 | benign | -1.622 | Destabilizing | 0.007 | N | 0.393 | neutral | None | None | None | None | N |
C/D | 0.4622 | ambiguous | 0.5403 | ambiguous | 0.255 | Stabilizing | 0.038 | N | 0.751 | deleterious | None | None | None | None | N |
C/E | 0.6996 | likely_pathogenic | 0.7551 | pathogenic | 0.339 | Stabilizing | 0.038 | N | 0.747 | deleterious | None | None | None | None | N |
C/F | 0.1804 | likely_benign | 0.1977 | benign | -1.106 | Destabilizing | 0.295 | N | 0.752 | deleterious | D | 0.633461606 | None | None | N |
C/G | 0.0873 | likely_benign | 0.0979 | benign | -1.907 | Destabilizing | 0.012 | N | 0.724 | prob.delet. | D | 0.530789164 | None | None | N |
C/H | 0.3531 | ambiguous | 0.3815 | ambiguous | -1.89 | Destabilizing | 0.356 | N | 0.745 | deleterious | None | None | None | None | N |
C/I | 0.2509 | likely_benign | 0.3192 | benign | -0.904 | Destabilizing | 0.038 | N | 0.735 | prob.delet. | None | None | None | None | N |
C/K | 0.6374 | likely_pathogenic | 0.6791 | pathogenic | -0.468 | Destabilizing | 0.038 | N | 0.749 | deleterious | None | None | None | None | N |
C/L | 0.2432 | likely_benign | 0.3002 | benign | -0.904 | Destabilizing | 0.016 | N | 0.695 | prob.neutral | None | None | None | None | N |
C/M | 0.3963 | ambiguous | 0.4753 | ambiguous | -0.223 | Destabilizing | 0.356 | N | 0.733 | prob.delet. | None | None | None | None | N |
C/N | 0.2317 | likely_benign | 0.2919 | benign | -0.379 | Destabilizing | 0.038 | N | 0.751 | deleterious | None | None | None | None | N |
C/P | 0.8569 | likely_pathogenic | 0.9146 | pathogenic | -1.118 | Destabilizing | 0.072 | N | 0.763 | deleterious | None | None | None | None | N |
C/Q | 0.5123 | ambiguous | 0.547 | ambiguous | -0.318 | Destabilizing | 0.214 | N | 0.774 | deleterious | None | None | None | None | N |
C/R | 0.3701 | ambiguous | 0.3756 | ambiguous | -0.415 | Destabilizing | 0.171 | N | 0.773 | deleterious | D | 0.529001762 | None | None | N |
C/S | 0.0611 | likely_benign | 0.071 | benign | -0.987 | Destabilizing | None | N | 0.403 | neutral | N | 0.455137968 | None | None | N |
C/T | 0.0988 | likely_benign | 0.1304 | benign | -0.714 | Destabilizing | None | N | 0.413 | neutral | None | None | None | None | N |
C/V | 0.2079 | likely_benign | 0.2574 | benign | -1.118 | Destabilizing | 0.016 | N | 0.705 | prob.neutral | None | None | None | None | N |
C/W | 0.4077 | ambiguous | 0.4597 | ambiguous | -1.027 | Destabilizing | 0.828 | D | 0.713 | prob.delet. | D | 0.6056504 | None | None | N |
C/Y | 0.2166 | likely_benign | 0.2451 | benign | -0.996 | Destabilizing | 0.295 | N | 0.748 | deleterious | D | 0.576509501 | 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.