Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14325 | 43198;43199;43200 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
N2AB | 12684 | 38275;38276;38277 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
N2A | 11757 | 35494;35495;35496 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
N2B | 5260 | 16003;16004;16005 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
Novex-1 | 5385 | 16378;16379;16380 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
Novex-2 | 5452 | 16579;16580;16581 | chr2:178633300;178633299;178633298 | chr2:179498027;179498026;179498025 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/P | rs979749249 | -1.136 | 0.998 | D | 0.835 | 0.478 | 0.610312411291 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/A | 0.8931 | likely_pathogenic | 0.8975 | pathogenic | -2.123 | Highly Destabilizing | 0.964 | D | 0.619 | neutral | None | None | None | None | N |
L/C | 0.9297 | likely_pathogenic | 0.9355 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
L/D | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -2.217 | Highly Destabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | None | N |
L/E | 0.9892 | likely_pathogenic | 0.9918 | pathogenic | -1.971 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | None | N |
L/F | 0.818 | likely_pathogenic | 0.8222 | pathogenic | -1.153 | Destabilizing | 0.99 | D | 0.742 | deleterious | None | None | None | None | N |
L/G | 0.9835 | likely_pathogenic | 0.9862 | pathogenic | -2.682 | Highly Destabilizing | 0.995 | D | 0.853 | deleterious | None | None | None | None | N |
L/H | 0.9815 | likely_pathogenic | 0.9865 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
L/I | 0.284 | likely_benign | 0.2563 | benign | -0.512 | Destabilizing | 0.455 | N | 0.325 | neutral | None | None | None | None | N |
L/K | 0.9837 | likely_pathogenic | 0.9885 | pathogenic | -1.447 | Destabilizing | 0.995 | D | 0.822 | deleterious | None | None | None | None | N |
L/M | 0.4375 | ambiguous | 0.3959 | ambiguous | -0.549 | Destabilizing | 0.647 | D | 0.343 | neutral | N | 0.439067303 | None | None | N |
L/N | 0.9848 | likely_pathogenic | 0.9874 | pathogenic | -1.81 | Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
L/P | 0.9323 | likely_pathogenic | 0.9538 | pathogenic | -1.029 | Destabilizing | 0.998 | D | 0.835 | deleterious | D | 0.610592339 | None | None | N |
L/Q | 0.9584 | likely_pathogenic | 0.9667 | pathogenic | -1.611 | Destabilizing | 0.993 | D | 0.78 | deleterious | D | 0.624485567 | None | None | N |
L/R | 0.9599 | likely_pathogenic | 0.9756 | pathogenic | -1.363 | Destabilizing | 0.993 | D | 0.792 | deleterious | D | 0.623658585 | None | None | N |
L/S | 0.9735 | likely_pathogenic | 0.9762 | pathogenic | -2.517 | Highly Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
L/T | 0.9241 | likely_pathogenic | 0.9304 | pathogenic | -2.119 | Highly Destabilizing | 0.995 | D | 0.729 | deleterious | None | None | None | None | N |
L/V | 0.3495 | ambiguous | 0.3408 | ambiguous | -1.029 | Destabilizing | 0.807 | D | 0.554 | neutral | D | 0.582627258 | None | None | N |
L/W | 0.976 | likely_pathogenic | 0.9804 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
L/Y | 0.9842 | likely_pathogenic | 0.9869 | pathogenic | -1.193 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | 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.