Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 33573 | 100942;100943;100944 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
N2AB | 31932 | 96019;96020;96021 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
N2A | 31005 | 93238;93239;93240 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
N2B | 24508 | 73747;73748;73749 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
Novex-1 | 24633 | 74122;74123;74124 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
Novex-2 | 24700 | 74323;74324;74325 | chr2:178536030;178536029;178536028 | chr2:179400757;179400756;179400755 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/I | rs2154137156 | None | 1.0 | D | 0.765 | 0.527 | 0.70075097299 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
T/I | rs2154137156 | None | 1.0 | D | 0.765 | 0.527 | 0.70075097299 | gnomAD-4.0.0 | 1.90449E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24669E-05 | None | 0 | 0 | 0 | 2.38578E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/A | 0.2355 | likely_benign | 0.2313 | benign | -0.903 | Destabilizing | 0.979 | D | 0.607 | neutral | N | 0.517052729 | None | None | N |
T/C | 0.8019 | likely_pathogenic | 0.8134 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
T/D | 0.9212 | likely_pathogenic | 0.8897 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
T/E | 0.8391 | likely_pathogenic | 0.7955 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
T/F | 0.7106 | likely_pathogenic | 0.7169 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
T/G | 0.6549 | likely_pathogenic | 0.6437 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
T/H | 0.7702 | likely_pathogenic | 0.7509 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
T/I | 0.472 | ambiguous | 0.503 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.527328437 | None | None | N |
T/K | 0.7561 | likely_pathogenic | 0.7467 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
T/L | 0.3685 | ambiguous | 0.3915 | ambiguous | -0.228 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
T/M | 0.2491 | likely_benign | 0.2742 | benign | 0.124 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
T/N | 0.4773 | ambiguous | 0.4655 | ambiguous | -0.882 | Destabilizing | 0.998 | D | 0.775 | deleterious | D | 0.536331923 | None | None | N |
T/P | 0.9202 | likely_pathogenic | 0.9234 | pathogenic | -0.42 | Destabilizing | 0.998 | D | 0.753 | deleterious | D | 0.529034999 | None | None | N |
T/Q | 0.6467 | likely_pathogenic | 0.619 | pathogenic | -1.047 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
T/R | 0.6955 | likely_pathogenic | 0.6927 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
T/S | 0.2696 | likely_benign | 0.2408 | benign | -1.14 | Destabilizing | 0.979 | D | 0.611 | neutral | N | 0.473435237 | None | None | N |
T/V | 0.2858 | likely_benign | 0.3304 | benign | -0.42 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
T/W | 0.9477 | likely_pathogenic | 0.947 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
T/Y | 0.8078 | likely_pathogenic | 0.8052 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.777 | 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.