Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 1024 | 3295;3296;3297 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
N2AB | 1024 | 3295;3296;3297 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
N2A | 1024 | 3295;3296;3297 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
N2B | 978 | 3157;3158;3159 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
Novex-1 | 978 | 3157;3158;3159 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
Novex-2 | 978 | 3157;3158;3159 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
Novex-3 | 1024 | 3295;3296;3297 | chr2:178782836;178782835;178782834 | chr2:179647563;179647562;179647561 |
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/F | None | None | 0.999 | D | 0.778 | 0.388 | 0.8544907614 | gnomAD-4.0.0 | 6.84403E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99408E-07 | 0 | 0 |
V/G | rs879097187 | -1.16 | 0.999 | N | 0.83 | 0.674 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/G | rs879097187 | -1.16 | 0.999 | N | 0.83 | 0.674 | None | gnomAD-4.0.0 | 1.3688E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.3151E-05 |
V/I | rs368770038 | -0.29 | 0.768 | N | 0.217 | 0.26 | None | gnomAD-2.1.1 | 3.99E-05 | None | None | None | None | I | None | 6.15E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.08E-05 | 0 |
V/I | rs368770038 | -0.29 | 0.768 | N | 0.217 | 0.26 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
V/I | rs368770038 | -0.29 | 0.768 | N | 0.217 | 0.26 | None | gnomAD-4.0.0 | 2.54131E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.30543E-05 | 1.09823E-05 | 1.60179E-05 |
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 | 0.4539 | ambiguous | 0.5637 | ambiguous | -0.901 | Destabilizing | 0.978 | D | 0.49 | neutral | N | 0.419768235 | None | None | I |
V/C | 0.9602 | likely_pathogenic | 0.9733 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
V/D | 0.9415 | likely_pathogenic | 0.9686 | pathogenic | -0.169 | Destabilizing | 0.999 | D | 0.851 | deleterious | N | 0.49853825 | None | None | I |
V/E | 0.8583 | likely_pathogenic | 0.9128 | pathogenic | -0.223 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | I |
V/F | 0.6497 | likely_pathogenic | 0.7558 | pathogenic | -0.833 | Destabilizing | 0.999 | D | 0.778 | deleterious | D | 0.634719972 | None | None | I |
V/G | 0.8065 | likely_pathogenic | 0.8798 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.83 | deleterious | N | 0.509258445 | None | None | I |
V/H | 0.9739 | likely_pathogenic | 0.9855 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
V/I | 0.1077 | likely_benign | 0.1209 | benign | -0.402 | Destabilizing | 0.768 | D | 0.217 | neutral | N | 0.505785461 | None | None | I |
V/K | 0.9094 | likely_pathogenic | 0.9437 | pathogenic | -0.618 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
V/L | 0.5773 | likely_pathogenic | 0.6904 | pathogenic | -0.402 | Destabilizing | 0.958 | D | 0.473 | neutral | N | 0.516435349 | None | None | I |
V/M | 0.4003 | ambiguous | 0.5187 | ambiguous | -0.412 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | I |
V/N | 0.8871 | likely_pathogenic | 0.932 | pathogenic | -0.379 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | I |
V/P | 0.9961 | likely_pathogenic | 0.998 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | I |
V/Q | 0.8682 | likely_pathogenic | 0.9137 | pathogenic | -0.562 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | I |
V/R | 0.885 | likely_pathogenic | 0.9264 | pathogenic | -0.187 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | I |
V/S | 0.7138 | likely_pathogenic | 0.801 | pathogenic | -0.932 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | I |
V/T | 0.5045 | ambiguous | 0.5975 | pathogenic | -0.869 | Destabilizing | 0.992 | D | 0.642 | neutral | None | None | None | None | I |
V/W | 0.9936 | likely_pathogenic | 0.9965 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
V/Y | 0.958 | likely_pathogenic | 0.9739 | pathogenic | -0.608 | Destabilizing | 0.999 | D | 0.795 | deleterious | 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.