Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 21594 | 65005;65006;65007 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
N2AB | 19953 | 60082;60083;60084 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
N2A | 19026 | 57301;57302;57303 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
N2B | 12529 | 37810;37811;37812 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
Novex-1 | 12654 | 38185;38186;38187 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
Novex-2 | 12721 | 38386;38387;38388 | chr2:178584861;178584860;178584859 | chr2:179449588;179449587;179449586 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/K | None | None | 0.919 | N | 0.56 | 0.138 | 0.18995819373 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.781 | likely_pathogenic | 0.8102 | pathogenic | -1.127 | Destabilizing | 0.938 | D | 0.713 | prob.delet. | None | None | None | None | N |
N/C | 0.5302 | ambiguous | 0.5436 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
N/D | 0.7931 | likely_pathogenic | 0.8369 | pathogenic | -1.332 | Destabilizing | 0.958 | D | 0.516 | neutral | N | 0.473672962 | None | None | N |
N/E | 0.9776 | likely_pathogenic | 0.9823 | pathogenic | -1.198 | Destabilizing | 0.938 | D | 0.504 | neutral | None | None | None | None | N |
N/F | 0.9772 | likely_pathogenic | 0.9787 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
N/G | 0.565 | likely_pathogenic | 0.61 | pathogenic | -1.471 | Destabilizing | 0.968 | D | 0.49 | neutral | None | None | None | None | N |
N/H | 0.4339 | ambiguous | 0.4743 | ambiguous | -1.061 | Destabilizing | 0.994 | D | 0.695 | prob.neutral | D | 0.524348768 | None | None | N |
N/I | 0.9759 | likely_pathogenic | 0.9818 | pathogenic | -0.238 | Destabilizing | 0.994 | D | 0.897 | deleterious | N | 0.487853651 | None | None | N |
N/K | 0.9656 | likely_pathogenic | 0.9722 | pathogenic | -0.327 | Destabilizing | 0.919 | D | 0.56 | neutral | N | 0.512187548 | None | None | N |
N/L | 0.9231 | likely_pathogenic | 0.9405 | pathogenic | -0.238 | Destabilizing | 0.991 | D | 0.813 | deleterious | None | None | None | None | N |
N/M | 0.9556 | likely_pathogenic | 0.9663 | pathogenic | 0.24 | Stabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
N/P | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -0.507 | Destabilizing | 0.995 | D | 0.859 | deleterious | None | None | None | None | N |
N/Q | 0.9175 | likely_pathogenic | 0.9342 | pathogenic | -1.14 | Destabilizing | 0.484 | N | 0.42 | neutral | None | None | None | None | N |
N/R | 0.919 | likely_pathogenic | 0.9293 | pathogenic | -0.258 | Destabilizing | 0.982 | D | 0.671 | neutral | None | None | None | None | N |
N/S | 0.1695 | likely_benign | 0.1962 | benign | -1.154 | Destabilizing | 0.958 | D | 0.505 | neutral | N | 0.505992294 | None | None | N |
N/T | 0.7779 | likely_pathogenic | 0.8097 | pathogenic | -0.832 | Destabilizing | 0.958 | D | 0.585 | neutral | N | 0.465684019 | None | None | N |
N/V | 0.9456 | likely_pathogenic | 0.958 | pathogenic | -0.507 | Destabilizing | 0.991 | D | 0.864 | deleterious | None | None | None | None | N |
N/W | 0.9886 | likely_pathogenic | 0.9906 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
N/Y | 0.7752 | likely_pathogenic | 0.7925 | pathogenic | -0.37 | Destabilizing | 0.998 | D | 0.865 | deleterious | N | 0.471622274 | 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.