Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 33474 | 100645;100646;100647 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
N2AB | 31833 | 95722;95723;95724 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
N2A | 30906 | 92941;92942;92943 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
N2B | 24409 | 73450;73451;73452 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
Novex-1 | 24534 | 73825;73826;73827 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
Novex-2 | 24601 | 74026;74027;74028 | chr2:178536327;178536326;178536325 | chr2:179401054;179401053;179401052 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/R | rs1221430009 | None | 1.0 | D | 0.927 | 0.865 | 0.719018106523 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
G/R | rs1221430009 | None | 1.0 | D | 0.927 | 0.865 | 0.719018106523 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | I | None | 0 | 6.5445E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/A | 0.7104 | likely_pathogenic | 0.6972 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.542135596 | None | None | I |
G/C | 0.8514 | likely_pathogenic | 0.8187 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
G/D | 0.8962 | likely_pathogenic | 0.8756 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | I |
G/E | 0.9061 | likely_pathogenic | 0.8831 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.560239851 | None | None | I |
G/F | 0.9711 | likely_pathogenic | 0.9681 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
G/H | 0.9767 | likely_pathogenic | 0.9702 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
G/I | 0.9575 | likely_pathogenic | 0.9478 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
G/K | 0.9643 | likely_pathogenic | 0.9569 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
G/L | 0.9662 | likely_pathogenic | 0.9601 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
G/M | 0.9745 | likely_pathogenic | 0.9655 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
G/N | 0.9262 | likely_pathogenic | 0.9032 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
G/P | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | I |
G/Q | 0.9321 | likely_pathogenic | 0.9169 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
G/R | 0.9175 | likely_pathogenic | 0.9052 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.560493341 | None | None | I |
G/S | 0.5668 | likely_pathogenic | 0.5175 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
G/T | 0.88 | likely_pathogenic | 0.8471 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
G/V | 0.9241 | likely_pathogenic | 0.9083 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.528652924 | None | None | I |
G/W | 0.9479 | likely_pathogenic | 0.9433 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.561507299 | None | None | I |
G/Y | 0.9619 | likely_pathogenic | 0.9528 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.906 | 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.