Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14992 | 45199;45200;45201 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
N2AB | 13351 | 40276;40277;40278 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
N2A | 12424 | 37495;37496;37497 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
N2B | 5927 | 18004;18005;18006 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
Novex-1 | 6052 | 18379;18380;18381 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
Novex-2 | 6119 | 18580;18581;18582 | chr2:178621948;178621947;178621946 | chr2:179486675;179486674;179486673 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | rs1174482047 | 0.465 | 0.134 | N | 0.194 | 0.156 | 0.237489013734 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.89257E-04 | None | 0 | 0 | 0 | 0 | 0 |
K/E | rs1174482047 | 0.465 | 0.134 | N | 0.194 | 0.156 | 0.237489013734 | gnomAD-4.0.0 | 1.31617E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.89257E-04 | None | 0 | 0 | 0 | 0 | 0 |
K/N | rs2058355200 | None | 0.959 | N | 0.386 | 0.272 | 0.291694819147 | gnomAD-4.0.0 | 1.59602E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86546E-06 | 0 | 0 |
K/Q | rs1174482047 | 0.201 | 0.31 | N | 0.192 | 0.153 | 0.242825505644 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
K/Q | rs1174482047 | 0.201 | 0.31 | N | 0.192 | 0.153 | 0.242825505644 | gnomAD-4.0.0 | 1.59614E-06 | None | None | None | None | N | None | 0 | 2.2979E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.461 | ambiguous | 0.4347 | ambiguous | -0.103 | Destabilizing | 0.863 | D | 0.425 | neutral | None | None | None | None | N |
K/C | 0.8827 | likely_pathogenic | 0.8812 | pathogenic | -0.487 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
K/D | 0.5719 | likely_pathogenic | 0.5442 | ambiguous | 0.215 | Stabilizing | 0.884 | D | 0.425 | neutral | None | None | None | None | N |
K/E | 0.1914 | likely_benign | 0.1653 | benign | 0.24 | Stabilizing | 0.134 | N | 0.194 | neutral | N | 0.41555998 | None | None | N |
K/F | 0.9195 | likely_pathogenic | 0.9073 | pathogenic | -0.323 | Destabilizing | 0.997 | D | 0.461 | neutral | None | None | None | None | N |
K/G | 0.6199 | likely_pathogenic | 0.5821 | pathogenic | -0.299 | Destabilizing | 0.969 | D | 0.447 | neutral | None | None | None | None | N |
K/H | 0.4397 | ambiguous | 0.438 | ambiguous | -0.497 | Destabilizing | 0.991 | D | 0.407 | neutral | None | None | None | None | N |
K/I | 0.5919 | likely_pathogenic | 0.5539 | ambiguous | 0.337 | Stabilizing | 0.997 | D | 0.466 | neutral | None | None | None | None | N |
K/L | 0.6144 | likely_pathogenic | 0.5775 | pathogenic | 0.337 | Stabilizing | 0.939 | D | 0.451 | neutral | None | None | None | None | N |
K/M | 0.46 | ambiguous | 0.4202 | ambiguous | 0.039 | Stabilizing | 0.996 | D | 0.409 | neutral | N | 0.516994154 | None | None | N |
K/N | 0.5071 | ambiguous | 0.4651 | ambiguous | -0.012 | Destabilizing | 0.959 | D | 0.386 | neutral | N | 0.503041927 | None | None | N |
K/P | 0.894 | likely_pathogenic | 0.8706 | pathogenic | 0.218 | Stabilizing | 0.997 | D | 0.369 | neutral | None | None | None | None | N |
K/Q | 0.172 | likely_benign | 0.1654 | benign | -0.115 | Destabilizing | 0.31 | N | 0.192 | neutral | N | 0.48678288 | None | None | N |
K/R | 0.0983 | likely_benign | 0.0955 | benign | -0.088 | Destabilizing | 0.92 | D | 0.415 | neutral | N | 0.510387553 | None | None | N |
K/S | 0.4902 | ambiguous | 0.4628 | ambiguous | -0.536 | Destabilizing | 0.939 | D | 0.401 | neutral | None | None | None | None | N |
K/T | 0.2669 | likely_benign | 0.238 | benign | -0.35 | Destabilizing | 0.959 | D | 0.423 | neutral | N | 0.511760013 | None | None | N |
K/V | 0.4997 | ambiguous | 0.4813 | ambiguous | 0.218 | Stabilizing | 0.969 | D | 0.423 | neutral | None | None | None | None | N |
K/W | 0.8978 | likely_pathogenic | 0.8876 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
K/Y | 0.8164 | likely_pathogenic | 0.8017 | pathogenic | 0.021 | Stabilizing | 0.997 | D | 0.445 | neutral | 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.