Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 1157 | 3694;3695;3696 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
N2AB | 1157 | 3694;3695;3696 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
N2A | 1157 | 3694;3695;3696 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
N2B | 1111 | 3556;3557;3558 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
Novex-1 | 1111 | 3556;3557;3558 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
Novex-2 | 1111 | 3556;3557;3558 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
Novex-3 | 1157 | 3694;3695;3696 | chr2:178781175;178781174;178781173 | chr2:179645902;179645901;179645900 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | rs1266730376 | -2.174 | 0.656 | N | 0.659 | 0.37 | 0.734822152697 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/A | rs1266730376 | -2.174 | 0.656 | N | 0.659 | 0.37 | 0.734822152697 | gnomAD-4.0.0 | 1.59073E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/I | rs397517566 | -0.261 | 0.014 | N | 0.237 | 0.109 | None | gnomAD-2.1.1 | 6.02E-05 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 5.03E-05 | None | 3.27E-05 | None | 0 | 1.08605E-04 | 0 |
V/I | rs397517566 | -0.261 | 0.014 | N | 0.237 | 0.109 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 4.77555E-04 |
V/I | rs397517566 | -0.261 | 0.014 | N | 0.237 | 0.109 | None | gnomAD-4.0.0 | 4.21339E-05 | None | None | None | None | N | None | 0 | 5.00083E-05 | None | 0 | 2.22946E-05 | None | 0 | 3.28839E-04 | 3.64418E-05 | 1.53714E-04 | 8.00205E-05 |
V/L | rs397517566 | -0.264 | 0.125 | N | 0.462 | 0.221 | 0.600074432338 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/L | rs397517566 | -0.264 | 0.125 | N | 0.462 | 0.221 | 0.600074432338 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/L | rs397517566 | -0.264 | 0.125 | N | 0.462 | 0.221 | 0.600074432338 | gnomAD-4.0.0 | 1.85885E-06 | None | None | None | None | N | None | 4.00427E-05 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.5394 | ambiguous | 0.4937 | ambiguous | -1.96 | Destabilizing | 0.656 | D | 0.659 | neutral | N | 0.506945426 | None | None | N |
V/C | 0.934 | likely_pathogenic | 0.9225 | pathogenic | -1.28 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
V/D | 0.9451 | likely_pathogenic | 0.9226 | pathogenic | -2.627 | Highly Destabilizing | 0.99 | D | 0.854 | deleterious | D | 0.583256418 | None | None | N |
V/E | 0.8393 | likely_pathogenic | 0.7956 | pathogenic | -2.396 | Highly Destabilizing | 0.993 | D | 0.811 | deleterious | None | None | None | None | N |
V/F | 0.3845 | ambiguous | 0.3518 | ambiguous | -1.141 | Destabilizing | 0.014 | N | 0.441 | neutral | N | 0.514851936 | None | None | N |
V/G | 0.8069 | likely_pathogenic | 0.7678 | pathogenic | -2.469 | Highly Destabilizing | 0.97 | D | 0.819 | deleterious | D | 0.607811347 | None | None | N |
V/H | 0.9172 | likely_pathogenic | 0.8981 | pathogenic | -2.294 | Highly Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
V/I | 0.0992 | likely_benign | 0.0989 | benign | -0.527 | Destabilizing | 0.014 | N | 0.237 | neutral | N | 0.457685237 | None | None | N |
V/K | 0.9125 | likely_pathogenic | 0.8936 | pathogenic | -1.504 | Destabilizing | 0.978 | D | 0.815 | deleterious | None | None | None | None | N |
V/L | 0.4307 | ambiguous | 0.3988 | ambiguous | -0.527 | Destabilizing | 0.125 | N | 0.462 | neutral | N | 0.504386854 | None | None | N |
V/M | 0.3056 | likely_benign | 0.2769 | benign | -0.621 | Destabilizing | 0.956 | D | 0.766 | deleterious | None | None | None | None | N |
V/N | 0.8541 | likely_pathogenic | 0.8241 | pathogenic | -1.878 | Destabilizing | 0.993 | D | 0.851 | deleterious | None | None | None | None | N |
V/P | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -0.981 | Destabilizing | 0.993 | D | 0.828 | deleterious | None | None | None | None | N |
V/Q | 0.816 | likely_pathogenic | 0.7844 | pathogenic | -1.691 | Destabilizing | 0.993 | D | 0.818 | deleterious | None | None | None | None | N |
V/R | 0.8572 | likely_pathogenic | 0.8264 | pathogenic | -1.403 | Destabilizing | 0.993 | D | 0.854 | deleterious | None | None | None | None | N |
V/S | 0.642 | likely_pathogenic | 0.6035 | pathogenic | -2.413 | Highly Destabilizing | 0.978 | D | 0.806 | deleterious | None | None | None | None | N |
V/T | 0.3796 | ambiguous | 0.3624 | ambiguous | -2.055 | Highly Destabilizing | 0.86 | D | 0.712 | prob.delet. | None | None | None | None | N |
V/W | 0.9675 | likely_pathogenic | 0.9616 | pathogenic | -1.707 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
V/Y | 0.8775 | likely_pathogenic | 0.8609 | pathogenic | -1.303 | Destabilizing | 0.915 | D | 0.807 | 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.