Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15462 | 46609;46610;46611 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
N2AB | 13821 | 41686;41687;41688 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
N2A | 12894 | 38905;38906;38907 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
N2B | 6397 | 19414;19415;19416 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
Novex-1 | 6522 | 19789;19790;19791 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
Novex-2 | 6589 | 19990;19991;19992 | chr2:178620033;178620032;178620031 | chr2:179484760;179484759;179484758 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/W | None | None | 1.0 | D | 0.864 | 0.821 | 0.859364730717 | gnomAD-4.0.0 | 6.84994E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0019E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/A | 0.8731 | likely_pathogenic | 0.8573 | pathogenic | -1.381 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | disulfide | None | N |
C/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
C/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | disulfide | None | N |
C/F | 0.8239 | likely_pathogenic | 0.8516 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.539290792 | disulfide | None | N |
C/G | 0.9155 | likely_pathogenic | 0.9129 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.72380464 | disulfide | None | N |
C/H | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
C/I | 0.8658 | likely_pathogenic | 0.8981 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | disulfide | None | N |
C/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | disulfide | None | N |
C/L | 0.8366 | likely_pathogenic | 0.8793 | pathogenic | -0.373 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | disulfide | None | N |
C/M | 0.9475 | likely_pathogenic | 0.9631 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | disulfide | None | N |
C/N | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | disulfide | None | N |
C/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | disulfide | None | N |
C/Q | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
C/R | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.72380464 | disulfide | None | N |
C/S | 0.9665 | likely_pathogenic | 0.9621 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.72380464 | disulfide | None | N |
C/T | 0.9677 | likely_pathogenic | 0.9655 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | disulfide | None | N |
C/V | 0.7002 | likely_pathogenic | 0.7361 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | disulfide | None | N |
C/W | 0.9914 | likely_pathogenic | 0.9927 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.72380464 | disulfide | None | N |
C/Y | 0.9811 | likely_pathogenic | 0.9841 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.64085871 | disulfide | 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.