Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35963 | 108112;108113;108114 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| N2AB | 34322 | 103189;103190;103191 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| N2A | 33395 | 100408;100409;100410 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| N2B | 26898 | 80917;80918;80919 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| Novex-1 | 27023 | 81292;81293;81294 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| Novex-2 | 27090 | 81493;81494;81495 | chr2:178527101;178527100;178527099 | chr2:179391828;179391827;179391826 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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/Q | rs1558953226  |
None | 0.92 | N | 0.38 | 0.158 | 0.132336055621 | gnomAD-4.0.0 | 1.59094E-06 | None | None | None | 0.298(OBSL1) -0.354(OBSCN) | N | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
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 | 0.5539 | ambiguous | 0.5275 | ambiguous | 0.062 | Stabilizing | 0.17 | N | 0.31 | neutral | None | None | None | -0.31(OBSL1) -0.557(OBSCN) | N |
| K/C | 0.8913 | likely_pathogenic | 0.8779 | pathogenic | -0.273 | Destabilizing | 0.999 | D | 0.401 | neutral | None | None | None | -0.006(OBSL1) 0.116(OBSCN) | N |
| K/D | 0.7584 | likely_pathogenic | 0.7659 | pathogenic | 0.015 | Stabilizing | 0.884 | D | 0.42 | neutral | None | None | None | -0.2(OBSL1) -0.194(OBSCN) | N |
| K/E | 0.2181 | likely_benign | 0.2129 | benign | 0.034 | Stabilizing | 0.061 | N | 0.2 | neutral | N | 0.418516877 | None | -0.26(OBSL1) -0.214(OBSCN) | N |
| K/F | 0.9303 | likely_pathogenic | 0.9207 | pathogenic | -0.077 | Destabilizing | 0.997 | D | 0.382 | neutral | None | None | None | -0.122(OBSL1) -0.592(OBSCN) | N |
| K/G | 0.6633 | likely_pathogenic | 0.6477 | pathogenic | -0.145 | Destabilizing | 0.939 | D | 0.444 | neutral | None | None | None | -0.323(OBSL1) -0.533(OBSCN) | N |
| K/H | 0.5155 | ambiguous | 0.5177 | ambiguous | -0.322 | Destabilizing | 0.997 | D | 0.358 | neutral | None | None | None | -0.08(OBSL1) -0.29(OBSCN) | N |
| K/I | 0.6148 | likely_pathogenic | 0.5969 | pathogenic | 0.532 | Stabilizing | 0.988 | D | 0.401 | neutral | N | 0.479642694 | None | -0.316(OBSL1) -0.607(OBSCN) | N |
| K/L | 0.5446 | ambiguous | 0.5334 | ambiguous | 0.532 | Stabilizing | 0.939 | D | 0.447 | neutral | None | None | None | -0.316(OBSL1) -0.607(OBSCN) | N |
| K/M | 0.4071 | ambiguous | 0.3805 | ambiguous | 0.135 | Stabilizing | 0.999 | D | 0.359 | neutral | None | None | None | -0.008(OBSL1) 0.257(OBSCN) | N |
| K/N | 0.5722 | likely_pathogenic | 0.566 | pathogenic | 0.154 | Stabilizing | 0.959 | D | 0.357 | neutral | N | 0.47242872 | None | 0.271(OBSL1) -0.531(OBSCN) | N |
| K/P | 0.6523 | likely_pathogenic | 0.6724 | pathogenic | 0.403 | Stabilizing | 0.991 | D | 0.344 | neutral | None | None | None | -0.306(OBSL1) -0.594(OBSCN) | N |
| K/Q | 0.1677 | likely_benign | 0.169 | benign | 0.028 | Stabilizing | 0.92 | D | 0.38 | neutral | N | 0.464097238 | None | 0.298(OBSL1) -0.354(OBSCN) | N |
| K/R | 0.1089 | likely_benign | 0.1091 | benign | -0.059 | Destabilizing | 0.92 | D | 0.395 | neutral | N | 0.423037263 | None | -0.253(OBSL1) -0.425(OBSCN) | N |
| K/S | 0.6174 | likely_pathogenic | 0.5961 | pathogenic | -0.29 | Destabilizing | 0.759 | D | 0.377 | neutral | None | None | None | 0.388(OBSL1) -0.446(OBSCN) | N |
| K/T | 0.3718 | ambiguous | 0.3526 | ambiguous | -0.123 | Destabilizing | 0.92 | D | 0.417 | neutral | N | 0.461056933 | None | 0.357(OBSL1) -0.453(OBSCN) | N |
| K/V | 0.5809 | likely_pathogenic | 0.5677 | pathogenic | 0.403 | Stabilizing | 0.939 | D | 0.451 | neutral | None | None | None | -0.306(OBSL1) -0.594(OBSCN) | N |
| K/W | 0.9198 | likely_pathogenic | 0.9106 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.469 | neutral | None | None | None | -0.288(OBSL1) -0.525(OBSCN) | N |
| K/Y | 0.8153 | likely_pathogenic | 0.8021 | pathogenic | 0.223 | Stabilizing | 0.997 | D | 0.391 | neutral | None | None | None | -0.058(OBSL1) -0.546(OBSCN) | 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.