Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26174 | 78745;78746;78747 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
N2AB | 24533 | 73822;73823;73824 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
N2A | 23606 | 71041;71042;71043 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
N2B | 17109 | 51550;51551;51552 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
Novex-1 | 17234 | 51925;51926;51927 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
Novex-2 | 17301 | 52126;52127;52128 | chr2:178567612;178567611;178567610 | chr2:179432339;179432338;179432337 |
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 | rs1157744481 | None | 0.046 | N | 0.368 | 0.205 | 0.171388866994 | gnomAD-4.0.0 | 3.19164E-06 | None | None | None | None | I | None | 5.66829E-05 | 0 | None | 0 | 2.78118E-05 | 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 | 0.2314 | likely_benign | 0.2201 | benign | -0.105 | Destabilizing | 0.953 | D | 0.661 | neutral | None | None | None | None | I |
K/C | 0.6198 | likely_pathogenic | 0.5801 | pathogenic | -0.273 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | I |
K/D | 0.4533 | ambiguous | 0.4349 | ambiguous | 0.152 | Stabilizing | 0.91 | D | 0.672 | neutral | None | None | None | None | I |
K/E | 0.139 | likely_benign | 0.1319 | benign | 0.185 | Stabilizing | 0.046 | N | 0.368 | neutral | N | 0.388378476 | None | None | I |
K/F | 0.6417 | likely_pathogenic | 0.5862 | pathogenic | -0.189 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
K/G | 0.3859 | ambiguous | 0.3668 | ambiguous | -0.346 | Destabilizing | 0.976 | D | 0.632 | neutral | None | None | None | None | I |
K/H | 0.3052 | likely_benign | 0.2881 | benign | -0.615 | Destabilizing | 0.998 | D | 0.662 | neutral | None | None | None | None | I |
K/I | 0.2415 | likely_benign | 0.217 | benign | 0.46 | Stabilizing | 0.991 | D | 0.71 | prob.delet. | N | 0.490198909 | None | None | I |
K/L | 0.2298 | likely_benign | 0.2049 | benign | 0.46 | Stabilizing | 0.986 | D | 0.62 | neutral | None | None | None | None | I |
K/M | 0.188 | likely_benign | 0.1694 | benign | 0.203 | Stabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | I |
K/N | 0.3293 | likely_benign | 0.311 | benign | 0.102 | Stabilizing | 0.982 | D | 0.663 | neutral | N | 0.477547303 | None | None | I |
K/P | 0.3503 | ambiguous | 0.3545 | ambiguous | 0.301 | Stabilizing | 0.993 | D | 0.691 | prob.neutral | None | None | None | None | I |
K/Q | 0.1158 | likely_benign | 0.113 | benign | -0.027 | Destabilizing | 0.964 | D | 0.667 | neutral | N | 0.493660502 | None | None | I |
K/R | 0.0887 | likely_benign | 0.086 | benign | -0.14 | Destabilizing | 0.1 | N | 0.355 | neutral | N | 0.457297057 | None | None | I |
K/S | 0.3184 | likely_benign | 0.298 | benign | -0.43 | Destabilizing | 0.953 | D | 0.653 | neutral | None | None | None | None | I |
K/T | 0.1586 | likely_benign | 0.1523 | benign | -0.23 | Destabilizing | 0.982 | D | 0.653 | neutral | N | 0.489332118 | None | None | I |
K/V | 0.2144 | likely_benign | 0.1958 | benign | 0.301 | Stabilizing | 0.993 | D | 0.655 | neutral | None | None | None | None | I |
K/W | 0.7547 | likely_pathogenic | 0.7047 | pathogenic | -0.176 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | I |
K/Y | 0.5369 | ambiguous | 0.4902 | ambiguous | 0.161 | Stabilizing | 0.998 | D | 0.71 | prob.delet. | None | None | None | None | I |
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.