Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 17251 | 51976;51977;51978 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
N2AB | 15610 | 47053;47054;47055 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
N2A | 14683 | 44272;44273;44274 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
N2B | 8186 | 24781;24782;24783 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
Novex-1 | 8311 | 25156;25157;25158 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
Novex-2 | 8378 | 25357;25358;25359 | chr2:178609559;178609558;178609557 | chr2:179474286;179474285;179474284 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/I | rs1304051107 | -0.788 | 0.016 | N | 0.301 | 0.068 | 0.416833835346 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | I | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/I | rs1304051107 | -0.788 | 0.016 | N | 0.301 | 0.068 | 0.416833835346 | gnomAD-4.0.0 | 2.06186E-06 | None | None | None | None | I | None | 0 | 4.51182E-05 | None | 0 | 0 | None | 0 | 0 | 9.02377E-07 | 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 | 0.7566 | likely_pathogenic | 0.7653 | pathogenic | -1.161 | Destabilizing | 0.834 | D | 0.597 | neutral | N | 0.502328418 | None | None | I |
V/C | 0.9584 | likely_pathogenic | 0.9525 | pathogenic | -0.904 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | I |
V/D | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -0.556 | Destabilizing | 0.973 | D | 0.717 | prob.delet. | N | 0.503888643 | None | None | I |
V/E | 0.9875 | likely_pathogenic | 0.9851 | pathogenic | -0.533 | Destabilizing | 0.979 | D | 0.681 | prob.neutral | None | None | None | None | I |
V/F | 0.8763 | likely_pathogenic | 0.8433 | pathogenic | -0.779 | Destabilizing | 0.946 | D | 0.723 | prob.delet. | N | 0.503541927 | None | None | I |
V/G | 0.8206 | likely_pathogenic | 0.8233 | pathogenic | -1.493 | Destabilizing | 0.973 | D | 0.713 | prob.delet. | N | 0.503888643 | None | None | I |
V/H | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.076 | Destabilizing | 0.998 | D | 0.69 | prob.neutral | None | None | None | None | I |
V/I | 0.1331 | likely_benign | 0.1344 | benign | -0.356 | Destabilizing | 0.016 | N | 0.301 | neutral | N | 0.500768193 | None | None | I |
V/K | 0.9939 | likely_pathogenic | 0.9918 | pathogenic | -0.888 | Destabilizing | 0.979 | D | 0.677 | prob.neutral | None | None | None | None | I |
V/L | 0.7214 | likely_pathogenic | 0.7039 | pathogenic | -0.356 | Destabilizing | 0.263 | N | 0.531 | neutral | N | 0.501808343 | None | None | I |
V/M | 0.7671 | likely_pathogenic | 0.7634 | pathogenic | -0.429 | Destabilizing | 0.959 | D | 0.724 | prob.delet. | None | None | None | None | I |
V/N | 0.9853 | likely_pathogenic | 0.9838 | pathogenic | -0.733 | Destabilizing | 0.993 | D | 0.716 | prob.delet. | None | None | None | None | I |
V/P | 0.9861 | likely_pathogenic | 0.9786 | pathogenic | -0.588 | Destabilizing | 0.993 | D | 0.692 | prob.neutral | None | None | None | None | I |
V/Q | 0.9922 | likely_pathogenic | 0.9906 | pathogenic | -0.813 | Destabilizing | 0.993 | D | 0.685 | prob.neutral | None | None | None | None | I |
V/R | 0.9898 | likely_pathogenic | 0.9866 | pathogenic | -0.562 | Destabilizing | 0.979 | D | 0.715 | prob.delet. | None | None | None | None | I |
V/S | 0.9498 | likely_pathogenic | 0.9488 | pathogenic | -1.326 | Destabilizing | 0.979 | D | 0.693 | prob.neutral | None | None | None | None | I |
V/T | 0.8835 | likely_pathogenic | 0.8875 | pathogenic | -1.18 | Destabilizing | 0.87 | D | 0.711 | prob.delet. | None | None | None | None | I |
V/W | 0.998 | likely_pathogenic | 0.997 | pathogenic | -0.983 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | I |
V/Y | 0.9853 | likely_pathogenic | 0.979 | pathogenic | -0.645 | Destabilizing | 0.979 | D | 0.733 | prob.delet. | 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.