Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26243 | 78952;78953;78954 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
N2AB | 24602 | 74029;74030;74031 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
N2A | 23675 | 71248;71249;71250 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
N2B | 17178 | 51757;51758;51759 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
Novex-1 | 17303 | 52132;52133;52134 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
Novex-2 | 17370 | 52333;52334;52335 | chr2:178567405;178567404;178567403 | chr2:179432132;179432131;179432130 |
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/E | rs1372864085 | None | 0.892 | N | 0.46 | 0.368 | 0.283761946502 | gnomAD-4.0.0 | 3.44556E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61131E-06 | 0 | 1.67146E-05 |
K/M | rs763231010 | 0.351 | 0.995 | N | 0.596 | 0.514 | 0.389904358541 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 3.04E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
K/M | rs763231010 | 0.351 | 0.995 | N | 0.596 | 0.514 | 0.389904358541 | gnomAD-4.0.0 | 1.61782E-06 | None | None | None | None | N | None | 0 | 2.37982E-05 | None | 0 | 0 | None | 0 | 0 | 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 | 0.5099 | ambiguous | 0.5235 | ambiguous | -0.175 | Destabilizing | 0.845 | D | 0.447 | neutral | None | None | None | None | N |
K/C | 0.7051 | likely_pathogenic | 0.6981 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
K/D | 0.7708 | likely_pathogenic | 0.7913 | pathogenic | 0.171 | Stabilizing | 0.987 | D | 0.567 | neutral | None | None | None | None | N |
K/E | 0.2327 | likely_benign | 0.2517 | benign | 0.225 | Stabilizing | 0.892 | D | 0.46 | neutral | N | 0.490172772 | None | None | N |
K/F | 0.8374 | likely_pathogenic | 0.8397 | pathogenic | -0.141 | Destabilizing | 0.975 | D | 0.706 | prob.neutral | None | None | None | None | N |
K/G | 0.6973 | likely_pathogenic | 0.7078 | pathogenic | -0.457 | Destabilizing | 0.987 | D | 0.528 | neutral | None | None | None | None | N |
K/H | 0.3219 | likely_benign | 0.3211 | benign | -0.767 | Destabilizing | 0.997 | D | 0.593 | neutral | None | None | None | None | N |
K/I | 0.3472 | ambiguous | 0.3625 | ambiguous | 0.511 | Stabilizing | 0.95 | D | 0.613 | neutral | None | None | None | None | N |
K/L | 0.4305 | ambiguous | 0.4438 | ambiguous | 0.511 | Stabilizing | 0.845 | D | 0.52 | neutral | None | None | None | None | N |
K/M | 0.2942 | likely_benign | 0.2994 | benign | 0.275 | Stabilizing | 0.995 | D | 0.596 | neutral | N | 0.495255571 | None | None | N |
K/N | 0.5826 | likely_pathogenic | 0.6096 | pathogenic | 0.012 | Stabilizing | 0.967 | D | 0.479 | neutral | N | 0.486999911 | None | None | N |
K/P | 0.9723 | likely_pathogenic | 0.9747 | pathogenic | 0.313 | Stabilizing | 0.996 | D | 0.599 | neutral | None | None | None | None | N |
K/Q | 0.1324 | likely_benign | 0.1345 | benign | -0.103 | Destabilizing | 0.967 | D | 0.493 | neutral | D | 0.526517574 | None | None | N |
K/R | 0.0854 | likely_benign | 0.0855 | benign | -0.245 | Destabilizing | 0.056 | N | 0.26 | neutral | D | 0.524189345 | None | None | N |
K/S | 0.5236 | ambiguous | 0.5369 | ambiguous | -0.566 | Destabilizing | 0.916 | D | 0.459 | neutral | None | None | None | None | N |
K/T | 0.2059 | likely_benign | 0.217 | benign | -0.331 | Destabilizing | 0.892 | D | 0.499 | neutral | N | 0.483918803 | None | None | N |
K/V | 0.3421 | ambiguous | 0.3544 | ambiguous | 0.313 | Stabilizing | 0.073 | N | 0.316 | neutral | None | None | None | None | N |
K/W | 0.7877 | likely_pathogenic | 0.7779 | pathogenic | -0.09 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
K/Y | 0.7175 | likely_pathogenic | 0.7288 | pathogenic | 0.234 | Stabilizing | 0.987 | D | 0.675 | prob.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.