Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 19540 | 58843;58844;58845 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
N2AB | 17899 | 53920;53921;53922 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
N2A | 16972 | 51139;51140;51141 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
N2B | 10475 | 31648;31649;31650 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
Novex-1 | 10600 | 32023;32024;32025 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
Novex-2 | 10667 | 32224;32225;32226 | chr2:178593682;178593681;178593680 | chr2:179458409;179458408;179458407 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/I | rs2050741869 | None | 1.0 | N | 0.812 | 0.339 | 0.574056412462 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7835E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.7532 | likely_pathogenic | 0.7499 | pathogenic | -0.414 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
K/C | 0.8693 | likely_pathogenic | 0.8577 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
K/D | 0.9188 | likely_pathogenic | 0.9284 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
K/E | 0.5499 | ambiguous | 0.5603 | ambiguous | 0.103 | Stabilizing | 0.999 | D | 0.608 | neutral | N | 0.499778398 | None | None | N |
K/F | 0.9247 | likely_pathogenic | 0.9254 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
K/G | 0.8666 | likely_pathogenic | 0.8796 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
K/H | 0.5009 | ambiguous | 0.4922 | ambiguous | -0.937 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
K/I | 0.624 | likely_pathogenic | 0.6042 | pathogenic | 0.437 | Stabilizing | 1.0 | D | 0.812 | deleterious | N | 0.465924281 | None | None | N |
K/L | 0.6562 | likely_pathogenic | 0.6347 | pathogenic | 0.437 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
K/M | 0.5159 | ambiguous | 0.5031 | ambiguous | 0.09 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
K/N | 0.8253 | likely_pathogenic | 0.8328 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.513497056 | None | None | N |
K/P | 0.8804 | likely_pathogenic | 0.881 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
K/Q | 0.3352 | likely_benign | 0.3233 | benign | -0.43 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.505416291 | None | None | N |
K/R | 0.0848 | likely_benign | 0.0814 | benign | -0.442 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.437345859 | None | None | N |
K/S | 0.8189 | likely_pathogenic | 0.8212 | pathogenic | -1.003 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
K/T | 0.4462 | ambiguous | 0.4469 | ambiguous | -0.696 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.424968421 | None | None | N |
K/V | 0.5809 | likely_pathogenic | 0.5472 | ambiguous | 0.183 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
K/W | 0.8892 | likely_pathogenic | 0.8884 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
K/Y | 0.8207 | likely_pathogenic | 0.8299 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.788 | 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.