Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 1321 | 4186;4187;4188 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
N2AB | 1321 | 4186;4187;4188 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
N2A | 1321 | 4186;4187;4188 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
N2B | 1275 | 4048;4049;4050 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
Novex-1 | 1275 | 4048;4049;4050 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
Novex-2 | 1275 | 4048;4049;4050 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
Novex-3 | 1321 | 4186;4187;4188 | chr2:178779231;178779230;178779229 | chr2:179643958;179643957;179643956 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | rs1204400340 | 0.441 | 0.999 | N | 0.662 | 0.505 | 0.435152311215 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
K/E | rs1204400340 | 0.441 | 0.999 | N | 0.662 | 0.505 | 0.435152311215 | gnomAD-4.0.0 | 2.40103E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62544E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.891 | likely_pathogenic | 0.8684 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | I |
K/C | 0.9688 | likely_pathogenic | 0.965 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
K/D | 0.9783 | likely_pathogenic | 0.972 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
K/E | 0.7727 | likely_pathogenic | 0.7322 | pathogenic | 0.275 | Stabilizing | 0.999 | D | 0.662 | neutral | N | 0.473135512 | None | None | I |
K/F | 0.9886 | likely_pathogenic | 0.9869 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
K/G | 0.9496 | likely_pathogenic | 0.9354 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
K/H | 0.7737 | likely_pathogenic | 0.7533 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
K/I | 0.8808 | likely_pathogenic | 0.8724 | pathogenic | 0.454 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
K/L | 0.8692 | likely_pathogenic | 0.8576 | pathogenic | 0.454 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
K/M | 0.8147 | likely_pathogenic | 0.8036 | pathogenic | 0.073 | Stabilizing | 1.0 | D | 0.751 | deleterious | D | 0.549640346 | None | None | I |
K/N | 0.9473 | likely_pathogenic | 0.937 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.761 | deleterious | N | 0.511333319 | None | None | I |
K/P | 0.9904 | likely_pathogenic | 0.9862 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
K/Q | 0.5245 | ambiguous | 0.4861 | ambiguous | -0.015 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.508906 | None | None | I |
K/R | 0.1488 | likely_benign | 0.1386 | benign | -0.105 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.513531673 | None | None | I |
K/S | 0.9289 | likely_pathogenic | 0.9156 | pathogenic | -0.495 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
K/T | 0.7545 | likely_pathogenic | 0.7372 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.49304959 | None | None | I |
K/V | 0.7873 | likely_pathogenic | 0.7761 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
K/W | 0.9878 | likely_pathogenic | 0.9848 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
K/Y | 0.9622 | likely_pathogenic | 0.9588 | pathogenic | 0.161 | Stabilizing | 1.0 | D | 0.769 | 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.