Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22172 | 66739;66740;66741 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
N2AB | 20531 | 61816;61817;61818 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
N2A | 19604 | 59035;59036;59037 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
N2B | 13107 | 39544;39545;39546 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
Novex-1 | 13232 | 39919;39920;39921 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
Novex-2 | 13299 | 40120;40121;40122 | chr2:178581754;178581753;178581752 | chr2:179446481;179446480;179446479 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/Y | rs1455920569 | -0.731 | 0.999 | N | 0.777 | 0.417 | 0.749682748319 | gnomAD-2.1.1 | 4.22E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.7301E-04 |
S/Y | rs1455920569 | -0.731 | 0.999 | N | 0.777 | 0.417 | 0.749682748319 | gnomAD-4.0.0 | 1.60848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.42601E-04 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.2899 | likely_benign | 0.2656 | benign | -0.358 | Destabilizing | 0.973 | D | 0.394 | neutral | N | 0.483381243 | None | None | N |
S/C | 0.2842 | likely_benign | 0.2769 | benign | -0.97 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.495119623 | None | None | N |
S/D | 0.9211 | likely_pathogenic | 0.92 | pathogenic | -1.921 | Destabilizing | 0.996 | D | 0.497 | neutral | None | None | None | None | N |
S/E | 0.9456 | likely_pathogenic | 0.9415 | pathogenic | -1.882 | Destabilizing | 0.996 | D | 0.501 | neutral | None | None | None | None | N |
S/F | 0.7394 | likely_pathogenic | 0.7016 | pathogenic | -0.984 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.503259925 | None | None | N |
S/G | 0.3091 | likely_benign | 0.3067 | benign | -0.534 | Destabilizing | 0.996 | D | 0.413 | neutral | None | None | None | None | N |
S/H | 0.6529 | likely_pathogenic | 0.6527 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
S/I | 0.8413 | likely_pathogenic | 0.7955 | pathogenic | 0.005 | Stabilizing | 0.998 | D | 0.769 | deleterious | None | None | None | None | N |
S/K | 0.9327 | likely_pathogenic | 0.9293 | pathogenic | -0.435 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | N |
S/L | 0.4992 | ambiguous | 0.4522 | ambiguous | 0.005 | Stabilizing | 0.992 | D | 0.635 | neutral | None | None | None | None | N |
S/M | 0.5561 | ambiguous | 0.5276 | ambiguous | 0.109 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
S/N | 0.5912 | likely_pathogenic | 0.5765 | pathogenic | -0.927 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | N |
S/P | 0.9959 | likely_pathogenic | 0.9961 | pathogenic | -0.087 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.544076791 | None | None | N |
S/Q | 0.8674 | likely_pathogenic | 0.8656 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
S/R | 0.913 | likely_pathogenic | 0.9076 | pathogenic | -0.297 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
S/T | 0.0902 | likely_benign | 0.0893 | benign | -0.625 | Destabilizing | 0.543 | D | 0.369 | neutral | N | 0.461959089 | None | None | N |
S/V | 0.7227 | likely_pathogenic | 0.678 | pathogenic | -0.087 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
S/W | 0.8472 | likely_pathogenic | 0.8335 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
S/Y | 0.6627 | likely_pathogenic | 0.638 | pathogenic | -0.685 | Destabilizing | 0.999 | D | 0.777 | deleterious | N | 0.486116721 | 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.