Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8530 | 25813;25814;25815 | chr2:178717146;178717145;178717144 | chr2:179581873;179581872;179581871 |
N2AB | 8213 | 24862;24863;24864 | chr2:178717146;178717145;178717144 | chr2:179581873;179581872;179581871 |
N2A | 7286 | 22081;22082;22083 | chr2:178717146;178717145;178717144 | chr2:179581873;179581872;179581871 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/E | rs2077607600 ![]() |
None | 1.0 | D | 0.832 | 0.662 | 0.794151654302 | 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 |
A/E | rs2077607600 ![]() |
None | 1.0 | D | 0.832 | 0.662 | 0.794151654302 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/C | 0.9007 | likely_pathogenic | 0.9017 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
A/D | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
A/E | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.65737199 | None | None | N |
A/F | 0.9634 | likely_pathogenic | 0.96 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
A/G | 0.3792 | ambiguous | 0.4082 | ambiguous | -1.546 | Destabilizing | 0.998 | D | 0.615 | neutral | D | 0.609112102 | None | None | N |
A/H | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
A/I | 0.7014 | likely_pathogenic | 0.6457 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
A/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
A/L | 0.7467 | likely_pathogenic | 0.6908 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
A/M | 0.9017 | likely_pathogenic | 0.8786 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
A/N | 0.9944 | likely_pathogenic | 0.9933 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
A/P | 0.9906 | likely_pathogenic | 0.9918 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.65737199 | None | None | N |
A/Q | 0.992 | likely_pathogenic | 0.9908 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
A/R | 0.9942 | likely_pathogenic | 0.9937 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
A/S | 0.4639 | ambiguous | 0.4445 | ambiguous | -1.747 | Destabilizing | 0.992 | D | 0.623 | neutral | D | 0.611928439 | None | None | N |
A/T | 0.6156 | likely_pathogenic | 0.5711 | pathogenic | -1.455 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | D | 0.640747216 | None | None | N |
A/V | 0.394 | ambiguous | 0.3504 | ambiguous | -0.267 | Destabilizing | 0.989 | D | 0.399 | neutral | N | 0.507126217 | None | None | N |
A/W | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
A/Y | 0.9934 | likely_pathogenic | 0.9931 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.881 | 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.