Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5963 | 18112;18113;18114 | chr2:178730646;178730645;178730644 | chr2:179595373;179595372;179595371 |
N2AB | 5646 | 17161;17162;17163 | chr2:178730646;178730645;178730644 | chr2:179595373;179595372;179595371 |
N2A | 4719 | 14380;14381;14382 | chr2:178730646;178730645;178730644 | chr2:179595373;179595372;179595371 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/G | rs146983095 | -0.216 | None | N | 0.226 | 0.11 | None | gnomAD-2.1.1 | 6.24446E-03 | None | None | None | None | N | None | 1.77774E-03 | 1.04691E-03 | None | 1.25871E-03 | 0 | None | 2.35356E-03 | None | 4.91685E-03 | 1.11904E-02 | 4.35516E-03 |
E/G | rs146983095 | -0.216 | None | N | 0.226 | 0.11 | None | gnomAD-3.1.2 | 6.04128E-03 | None | None | None | None | N | None | 2.31683E-03 | 2.55637E-03 | 5.48246E-03 | 0 | 1.93125E-04 | None | 3.67439E-03 | 0 | 1.06442E-02 | 1.0352E-03 | 4.77555E-03 |
E/G | rs146983095 | -0.216 | None | N | 0.226 | 0.11 | None | 1000 genomes | 2.19649E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 9.9E-03 | None | None | None | 0 | None |
E/G | rs146983095 | -0.216 | None | N | 0.226 | 0.11 | None | gnomAD-4.0.0 | 9.71013E-03 | None | None | None | None | N | None | 1.85294E-03 | 1.7669E-03 | None | 8.78735E-04 | 2.22955E-05 | None | 5.46772E-03 | 8.25627E-04 | 1.21964E-02 | 2.36051E-03 | 6.94711E-03 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1234 | likely_benign | 0.1196 | benign | -0.088 | Destabilizing | 0.027 | N | 0.313 | neutral | N | 0.39773896 | None | None | N |
E/C | 0.7553 | likely_pathogenic | 0.7275 | pathogenic | -0.081 | Destabilizing | 0.935 | D | 0.276 | neutral | None | None | None | None | N |
E/D | 0.066 | likely_benign | 0.0612 | benign | -0.244 | Destabilizing | None | N | 0.148 | neutral | N | 0.405779654 | None | None | N |
E/F | 0.6828 | likely_pathogenic | 0.6783 | pathogenic | -0.108 | Destabilizing | 0.555 | D | 0.277 | neutral | None | None | None | None | N |
E/G | 0.0949 | likely_benign | 0.0966 | benign | -0.209 | Destabilizing | None | N | 0.226 | neutral | N | 0.406875732 | None | None | N |
E/H | 0.3005 | likely_benign | 0.2825 | benign | 0.398 | Stabilizing | 0.001 | N | 0.196 | neutral | None | None | None | None | N |
E/I | 0.3428 | ambiguous | 0.336 | benign | 0.176 | Stabilizing | 0.555 | D | 0.299 | neutral | None | None | None | None | N |
E/K | 0.1085 | likely_benign | 0.1083 | benign | 0.473 | Stabilizing | 0.062 | N | 0.269 | neutral | N | 0.46840698 | None | None | N |
E/L | 0.326 | likely_benign | 0.312 | benign | 0.176 | Stabilizing | 0.149 | N | 0.348 | neutral | None | None | None | None | N |
E/M | 0.4289 | ambiguous | 0.4248 | ambiguous | 0.06 | Stabilizing | 0.935 | D | 0.274 | neutral | None | None | None | None | N |
E/N | 0.131 | likely_benign | 0.1201 | benign | 0.205 | Stabilizing | 0.081 | N | 0.259 | neutral | None | None | None | None | N |
E/P | 0.2153 | likely_benign | 0.2014 | benign | 0.106 | Stabilizing | 0.555 | D | 0.315 | neutral | None | None | None | None | N |
E/Q | 0.1131 | likely_benign | 0.1126 | benign | 0.225 | Stabilizing | 0.005 | N | 0.178 | neutral | N | 0.465868107 | None | None | N |
E/R | 0.1814 | likely_benign | 0.1827 | benign | 0.649 | Stabilizing | 0.149 | N | 0.271 | neutral | None | None | None | None | N |
E/S | 0.1139 | likely_benign | 0.1124 | benign | 0.076 | Stabilizing | 0.035 | N | 0.249 | neutral | None | None | None | None | N |
E/T | 0.1844 | likely_benign | 0.1762 | benign | 0.185 | Stabilizing | 0.149 | N | 0.37 | neutral | None | None | None | None | N |
E/V | 0.2093 | likely_benign | 0.2015 | benign | 0.106 | Stabilizing | 0.211 | N | 0.339 | neutral | N | 0.497268449 | None | None | N |
E/W | 0.783 | likely_pathogenic | 0.7805 | pathogenic | -0.047 | Destabilizing | 0.935 | D | 0.299 | neutral | None | None | None | None | N |
E/Y | 0.4939 | ambiguous | 0.476 | ambiguous | 0.115 | Stabilizing | 0.38 | N | 0.306 | neutral | 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.