Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26617 | 80074;80075;80076 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
N2AB | 24976 | 75151;75152;75153 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
N2A | 24049 | 72370;72371;72372 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
N2B | 17552 | 52879;52880;52881 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
Novex-1 | 17677 | 53254;53255;53256 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
Novex-2 | 17744 | 53455;53456;53457 | chr2:178566283;178566282;178566281 | chr2:179431010;179431009;179431008 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/R | None | None | 0.046 | N | 0.229 | 0.151 | 0.247322355667 | gnomAD-4.0.0 | 3.60103E-06 | None | None | None | None | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.5093 | ambiguous | 0.5225 | ambiguous | -0.063 | Destabilizing | 0.953 | D | 0.555 | neutral | None | None | None | None | N |
K/C | 0.5874 | likely_pathogenic | 0.6298 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
K/D | 0.8604 | likely_pathogenic | 0.8651 | pathogenic | -0.351 | Destabilizing | 0.993 | D | 0.65 | neutral | None | None | None | None | N |
K/E | 0.437 | ambiguous | 0.4204 | ambiguous | -0.352 | Destabilizing | 0.939 | D | 0.54 | neutral | N | 0.51412428 | None | None | N |
K/F | 0.7919 | likely_pathogenic | 0.8021 | pathogenic | -0.42 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
K/G | 0.6457 | likely_pathogenic | 0.6791 | pathogenic | -0.187 | Destabilizing | 0.993 | D | 0.523 | neutral | None | None | None | None | N |
K/H | 0.2575 | likely_benign | 0.27 | benign | -0.242 | Destabilizing | 0.998 | D | 0.664 | neutral | None | None | None | None | N |
K/I | 0.4308 | ambiguous | 0.4372 | ambiguous | 0.185 | Stabilizing | 0.991 | D | 0.676 | prob.neutral | N | 0.502909995 | None | None | N |
K/L | 0.48 | ambiguous | 0.494 | ambiguous | 0.185 | Stabilizing | 0.986 | D | 0.523 | neutral | None | None | None | None | N |
K/M | 0.3597 | ambiguous | 0.3681 | ambiguous | -0.279 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
K/N | 0.6829 | likely_pathogenic | 0.6863 | pathogenic | -0.149 | Destabilizing | 0.982 | D | 0.63 | neutral | N | 0.49306307 | None | None | N |
K/P | 0.9689 | likely_pathogenic | 0.973 | pathogenic | 0.125 | Stabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | N |
K/Q | 0.1699 | likely_benign | 0.1732 | benign | -0.246 | Destabilizing | 0.982 | D | 0.629 | neutral | D | 0.522765193 | None | None | N |
K/R | 0.0642 | likely_benign | 0.0664 | benign | -0.131 | Destabilizing | 0.046 | N | 0.229 | neutral | N | 0.454886762 | None | None | N |
K/S | 0.5417 | ambiguous | 0.5553 | ambiguous | -0.475 | Destabilizing | 0.953 | D | 0.588 | neutral | None | None | None | None | N |
K/T | 0.2689 | likely_benign | 0.258 | benign | -0.358 | Destabilizing | 0.991 | D | 0.609 | neutral | N | 0.471085579 | None | None | N |
K/V | 0.4177 | ambiguous | 0.4188 | ambiguous | 0.125 | Stabilizing | 0.993 | D | 0.63 | neutral | None | None | None | None | N |
K/W | 0.6505 | likely_pathogenic | 0.7091 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
K/Y | 0.6514 | likely_pathogenic | 0.6846 | pathogenic | -0.196 | Destabilizing | 0.998 | D | 0.657 | neutral | 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.