Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17408 | 52447;52448;52449 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| N2AB | 15767 | 47524;47525;47526 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| N2A | 14840 | 44743;44744;44745 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| N2B | 8343 | 25252;25253;25254 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| Novex-1 | 8468 | 25627;25628;25629 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| Novex-2 | 8535 | 25828;25829;25830 | chr2:178608789;178608788;178608787 | chr2:179473516;179473515;179473514 |
| 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/N | rs751225383  |
-2.359 | 0.999 | N | 0.835 | 0.4 | 0.361360026772 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs751225383 |
-2.359 | 0.999 | N | 0.835 | 0.4 | 0.361360026772 | gnomAD-4.0.0 | 4.78188E-06 | None | None | None | None | N | None | 0 | 4.57854E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03122E-05 |
| K/T | rs876658066 |
-2.111 | 0.999 | N | 0.815 | 0.403 | 0.483224754729 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| K/T | rs876658066 |
-2.111 | 0.999 | N | 0.815 | 0.403 | 0.483224754729 | gnomAD-4.0.0 | 1.43439E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.57571E-05 | 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 | 0.9691 | likely_pathogenic | 0.9668 | pathogenic | -1.283 | Destabilizing | 0.994 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/C | 0.9308 | likely_pathogenic | 0.9379 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| K/D | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -2.068 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| K/E | 0.9358 | likely_pathogenic | 0.9327 | pathogenic | -1.748 | Destabilizing | 0.992 | D | 0.726 | prob.delet. | N | 0.485371663 | None | None | N |
| K/F | 0.9806 | likely_pathogenic | 0.9823 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| K/G | 0.9823 | likely_pathogenic | 0.9782 | pathogenic | -1.756 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| K/H | 0.8857 | likely_pathogenic | 0.8901 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| K/I | 0.854 | likely_pathogenic | 0.8637 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| K/L | 0.8291 | likely_pathogenic | 0.8316 | pathogenic | 0.074 | Stabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| K/M | 0.6051 | likely_pathogenic | 0.6011 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.479000481 | None | None | N |
| K/N | 0.9894 | likely_pathogenic | 0.9886 | pathogenic | -1.864 | Destabilizing | 0.999 | D | 0.835 | deleterious | N | 0.508248858 | None | None | N |
| K/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| K/Q | 0.6093 | likely_pathogenic | 0.6106 | pathogenic | -1.464 | Destabilizing | 0.998 | D | 0.839 | deleterious | N | 0.505840365 | None | None | N |
| K/R | 0.1665 | likely_benign | 0.1816 | benign | -0.627 | Destabilizing | 0.467 | N | 0.365 | neutral | N | 0.427302224 | None | None | N |
| K/S | 0.9874 | likely_pathogenic | 0.9856 | pathogenic | -2.328 | Highly Destabilizing | 0.997 | D | 0.757 | deleterious | None | None | None | None | N |
| K/T | 0.927 | likely_pathogenic | 0.9123 | pathogenic | -1.744 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.47274791 | None | None | N |
| K/V | 0.8339 | likely_pathogenic | 0.8424 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| K/W | 0.9734 | likely_pathogenic | 0.9744 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/Y | 0.9232 | likely_pathogenic | 0.9299 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.86 | deleterious | 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.