Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28675 | 86248;86249;86250 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| N2AB | 27034 | 81325;81326;81327 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| N2A | 26107 | 78544;78545;78546 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| N2B | 19610 | 59053;59054;59055 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| Novex-1 | 19735 | 59428;59429;59430 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| Novex-2 | 19802 | 59629;59630;59631 | chr2:178560109;178560108;178560107 | chr2:179424836;179424835;179424834 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs766419568  |
-0.744 | 1.0 | D | 0.885 | 0.554 | 0.87202896623 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.72E-05 | 0 |
| P/L | rs766419568 |
-0.744 | 1.0 | D | 0.885 | 0.554 | 0.87202896623 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| P/L | rs766419568 |
-0.744 | 1.0 | D | 0.885 | 0.554 | 0.87202896623 | gnomAD-4.0.0 | 6.25936E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4764E-05 | 1.09806E-05 | 0 |
| P/Q | rs766419568 |
-2.028 | 1.0 | D | 0.811 | 0.557 | 0.697046195919 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs766419568 |
-2.028 | 1.0 | D | 0.811 | 0.557 | 0.697046195919 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs766419568 |
-2.028 | 1.0 | D | 0.811 | 0.557 | 0.697046195919 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 2.41558E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8169 | likely_pathogenic | 0.7125 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.575096416 | None | None | N |
| P/C | 0.989 | likely_pathogenic | 0.9813 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/D | 0.9977 | likely_pathogenic | 0.9961 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.996 | likely_pathogenic | 0.9924 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/G | 0.9747 | likely_pathogenic | 0.956 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9929 | likely_pathogenic | 0.9882 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/I | 0.9957 | likely_pathogenic | 0.9928 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9971 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/L | 0.9749 | likely_pathogenic | 0.9604 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.606963695 | None | None | N |
| P/M | 0.9956 | likely_pathogenic | 0.9928 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/N | 0.9924 | likely_pathogenic | 0.9881 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Q | 0.9922 | likely_pathogenic | 0.9851 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.570594207 | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9909 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.595930514 | None | None | N |
| P/S | 0.9337 | likely_pathogenic | 0.8841 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.54683305 | None | None | N |
| P/T | 0.9577 | likely_pathogenic | 0.9263 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.579709349 | None | None | N |
| P/V | 0.9818 | likely_pathogenic | 0.9689 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.883 | 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.