Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 32007 | 96244;96245;96246 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
N2AB | 30366 | 91321;91322;91323 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
N2A | 29439 | 88540;88541;88542 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
N2B | 22942 | 69049;69050;69051 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
Novex-1 | 23067 | 69424;69425;69426 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
Novex-2 | 23134 | 69625;69626;69627 | chr2:178544210;178544209;178544208 | chr2:179408937;179408936;179408935 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/D | rs569522219 | -0.105 | 0.997 | N | 0.595 | 0.144 | 0.281381271821 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
E/D | rs569522219 | -0.105 | 0.997 | N | 0.595 | 0.144 | 0.281381271821 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
E/D | rs569522219 | -0.105 | 0.997 | N | 0.595 | 0.144 | 0.281381271821 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
E/D | rs569522219 | -0.105 | 0.997 | N | 0.595 | 0.144 | 0.281381271821 | gnomAD-4.0.0 | 6.56521E-06 | None | None | None | None | N | None | 2.40523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
E/G | rs1205390409 | None | 0.999 | N | 0.622 | 0.473 | 0.608345586348 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
E/G | rs1205390409 | None | 0.999 | N | 0.622 | 0.473 | 0.608345586348 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.5297 | ambiguous | 0.4901 | ambiguous | -0.195 | Destabilizing | 0.997 | D | 0.745 | deleterious | N | 0.495959807 | None | None | N |
E/C | 0.9743 | likely_pathogenic | 0.9691 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
E/D | 0.1704 | likely_benign | 0.1812 | benign | -0.252 | Destabilizing | 0.997 | D | 0.595 | neutral | N | 0.441973393 | None | None | N |
E/F | 0.972 | likely_pathogenic | 0.9649 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
E/G | 0.5795 | likely_pathogenic | 0.5105 | ambiguous | -0.356 | Destabilizing | 0.999 | D | 0.622 | neutral | N | 0.501479634 | None | None | N |
E/H | 0.9047 | likely_pathogenic | 0.8884 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
E/I | 0.8725 | likely_pathogenic | 0.8429 | pathogenic | 0.182 | Stabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
E/K | 0.7216 | likely_pathogenic | 0.661 | pathogenic | 0.406 | Stabilizing | 0.997 | D | 0.733 | deleterious | N | 0.492957257 | None | None | N |
E/L | 0.8327 | likely_pathogenic | 0.8049 | pathogenic | 0.182 | Stabilizing | 0.999 | D | 0.707 | prob.delet. | None | None | None | None | N |
E/M | 0.8804 | likely_pathogenic | 0.854 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
E/N | 0.607 | likely_pathogenic | 0.5915 | pathogenic | 0.097 | Stabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
E/P | 0.7491 | likely_pathogenic | 0.7386 | pathogenic | 0.076 | Stabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
E/Q | 0.4959 | ambiguous | 0.4478 | ambiguous | 0.129 | Stabilizing | 0.999 | D | 0.655 | prob.neutral | N | 0.482361421 | None | None | N |
E/R | 0.8289 | likely_pathogenic | 0.7927 | pathogenic | 0.632 | Stabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
E/S | 0.5728 | likely_pathogenic | 0.5305 | ambiguous | -0.05 | Destabilizing | 0.998 | D | 0.758 | deleterious | None | None | None | None | N |
E/T | 0.7449 | likely_pathogenic | 0.7053 | pathogenic | 0.087 | Stabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
E/V | 0.7244 | likely_pathogenic | 0.6761 | pathogenic | 0.076 | Stabilizing | 0.999 | D | 0.728 | deleterious | N | 0.501733123 | None | None | N |
E/W | 0.9874 | likely_pathogenic | 0.9838 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
E/Y | 0.9344 | likely_pathogenic | 0.9218 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.773 | 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.