Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 28157 | 84694;84695;84696 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
N2AB | 26516 | 79771;79772;79773 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
N2A | 25589 | 76990;76991;76992 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
N2B | 19092 | 57499;57500;57501 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
Novex-1 | 19217 | 57874;57875;57876 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
Novex-2 | 19284 | 58075;58076;58077 | chr2:178561663;178561662;178561661 | chr2:179426390;179426389;179426388 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/L | None | None | 0.988 | D | 0.87 | 0.516 | 0.740553466771 | gnomAD-4.0.0 | 1.60947E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45366E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.1438 | likely_benign | 0.1292 | benign | -1.26 | Destabilizing | 0.958 | D | 0.797 | deleterious | N | 0.480939134 | None | None | I |
P/C | 0.6929 | likely_pathogenic | 0.6303 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
P/D | 0.9503 | likely_pathogenic | 0.918 | pathogenic | -1.203 | Destabilizing | 0.995 | D | 0.843 | deleterious | None | None | None | None | I |
P/E | 0.7479 | likely_pathogenic | 0.6628 | pathogenic | -1.272 | Destabilizing | 0.991 | D | 0.827 | deleterious | None | None | None | None | I |
P/F | 0.7473 | likely_pathogenic | 0.6897 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
P/G | 0.7668 | likely_pathogenic | 0.7216 | pathogenic | -1.494 | Destabilizing | 0.991 | D | 0.833 | deleterious | None | None | None | None | I |
P/H | 0.574 | likely_pathogenic | 0.5019 | ambiguous | -1.019 | Destabilizing | 0.998 | D | 0.897 | deleterious | D | 0.531307545 | None | None | I |
P/I | 0.5386 | ambiguous | 0.4948 | ambiguous | -0.746 | Destabilizing | 0.995 | D | 0.896 | deleterious | None | None | None | None | I |
P/K | 0.7769 | likely_pathogenic | 0.7376 | pathogenic | -0.938 | Destabilizing | 0.938 | D | 0.813 | deleterious | None | None | None | None | I |
P/L | 0.322 | likely_benign | 0.2924 | benign | -0.746 | Destabilizing | 0.988 | D | 0.87 | deleterious | D | 0.531054055 | None | None | I |
P/M | 0.5171 | ambiguous | 0.4697 | ambiguous | -0.518 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
P/N | 0.8119 | likely_pathogenic | 0.7215 | pathogenic | -0.649 | Destabilizing | 0.991 | D | 0.87 | deleterious | None | None | None | None | I |
P/Q | 0.445 | ambiguous | 0.3896 | ambiguous | -0.948 | Destabilizing | 0.991 | D | 0.856 | deleterious | None | None | None | None | I |
P/R | 0.637 | likely_pathogenic | 0.5804 | pathogenic | -0.362 | Destabilizing | 0.142 | N | 0.645 | neutral | N | 0.500326047 | None | None | I |
P/S | 0.3432 | ambiguous | 0.2679 | benign | -1.095 | Destabilizing | 0.988 | D | 0.828 | deleterious | N | 0.482284244 | None | None | I |
P/T | 0.3599 | ambiguous | 0.3031 | benign | -1.067 | Destabilizing | 0.988 | D | 0.817 | deleterious | N | 0.496313576 | None | None | I |
P/V | 0.4201 | ambiguous | 0.3865 | ambiguous | -0.883 | Destabilizing | 0.995 | D | 0.871 | deleterious | None | None | None | None | I |
P/W | 0.9247 | likely_pathogenic | 0.9035 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
P/Y | 0.7956 | likely_pathogenic | 0.7461 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.915 | deleterious | 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.