Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10061 | 30406;30407;30408 | chr2:178704189;178704188;178704187 | chr2:179568916;179568915;179568914 |
| N2AB | 9744 | 29455;29456;29457 | chr2:178704189;178704188;178704187 | chr2:179568916;179568915;179568914 |
| N2A | 8817 | 26674;26675;26676 | chr2:178704189;178704188;178704187 | chr2:179568916;179568915;179568914 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs184153985  |
None | 0.64 | None | 0.551 | 0.242 | 0.337868961071 | gnomAD-4.0.0 | 1.36831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03804E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/I | None | None | 0.984 | None | 0.708 | 0.455 | 0.563359363175 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/Q | rs184153985 |
-0.781 | 0.251 | None | 0.376 | 0.14 | None | gnomAD-2.1.1 | 1.49662E-04 | None | None | None | None | N | None | 1.69422E-03 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs184153985 |
-0.781 | 0.251 | None | 0.376 | 0.14 | None | gnomAD-3.1.2 | 4.59831E-04 | None | None | None | None | N | None | 1.66442E-03 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs184153985 |
-0.781 | 0.251 | None | 0.376 | 0.14 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/Q | rs184153985 |
-0.781 | 0.251 | None | 0.376 | 0.14 | None | gnomAD-4.0.0 | 7.43492E-05 | None | None | None | None | N | None | 1.51887E-03 | 6.66378E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20051E-05 |
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 | 0.6249 | likely_pathogenic | 0.8079 | pathogenic | -1.12 | Destabilizing | 0.919 | D | 0.575 | neutral | None | None | None | None | N |
| K/C | 0.7662 | likely_pathogenic | 0.9067 | pathogenic | -1.272 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/D | 0.921 | likely_pathogenic | 0.9716 | pathogenic | -0.714 | Destabilizing | 0.919 | D | 0.615 | neutral | None | None | None | None | N |
| K/E | 0.4037 | ambiguous | 0.5872 | pathogenic | -0.515 | Destabilizing | 0.64 | D | 0.551 | neutral | None | None | None | None | N |
| K/F | 0.8725 | likely_pathogenic | 0.9541 | pathogenic | -0.607 | Destabilizing | 0.996 | D | 0.708 | prob.delet. | None | None | None | None | N |
| K/G | 0.7704 | likely_pathogenic | 0.9051 | pathogenic | -1.553 | Destabilizing | 0.959 | D | 0.657 | neutral | None | None | None | None | N |
| K/H | 0.3992 | ambiguous | 0.5891 | pathogenic | -1.739 | Destabilizing | 0.988 | D | 0.643 | neutral | None | None | None | None | N |
| K/I | 0.4296 | ambiguous | 0.6346 | pathogenic | 0.054 | Stabilizing | 0.984 | D | 0.708 | prob.delet. | None | None | None | None | N |
| K/L | 0.4912 | ambiguous | 0.7012 | pathogenic | 0.054 | Stabilizing | 0.919 | D | 0.657 | neutral | None | None | None | None | N |
| K/M | 0.3558 | ambiguous | 0.5257 | ambiguous | -0.139 | Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | N |
| K/N | 0.7304 | likely_pathogenic | 0.8756 | pathogenic | -1.113 | Destabilizing | 0.896 | D | 0.595 | neutral | None | None | None | None | N |
| K/P | 0.9885 | likely_pathogenic | 0.9958 | pathogenic | -0.31 | Destabilizing | 0.996 | D | 0.658 | neutral | None | None | None | None | N |
| K/Q | 0.171 | likely_benign | 0.2581 | benign | -1.051 | Destabilizing | 0.251 | N | 0.376 | neutral | None | None | None | None | N |
| K/R | 0.0766 | likely_benign | 0.0904 | benign | -0.87 | Destabilizing | 0.011 | N | 0.264 | neutral | None | None | None | None | N |
| K/S | 0.6711 | likely_pathogenic | 0.841 | pathogenic | -1.848 | Destabilizing | 0.919 | D | 0.579 | neutral | None | None | None | None | N |
| K/T | 0.3233 | likely_benign | 0.5063 | ambiguous | -1.407 | Destabilizing | 0.946 | D | 0.602 | neutral | None | None | None | None | N |
| K/V | 0.4535 | ambiguous | 0.6445 | pathogenic | -0.31 | Destabilizing | 0.988 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/W | 0.817 | likely_pathogenic | 0.9377 | pathogenic | -0.467 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/Y | 0.7717 | likely_pathogenic | 0.8982 | pathogenic | -0.152 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | 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.