Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32226 | 96901;96902;96903 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| N2AB | 30585 | 91978;91979;91980 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| N2A | 29658 | 89197;89198;89199 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| N2B | 23161 | 69706;69707;69708 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| Novex-1 | 23286 | 70081;70082;70083 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| Novex-2 | 23353 | 70282;70283;70284 | chr2:178543297;178543296;178543295 | chr2:179408024;179408023;179408022 |
| 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/S | rs1060500595  |
None | 1.0 | D | 0.823 | 0.697 | 0.5343833383 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1060500595 |
None | 1.0 | D | 0.823 | 0.697 | 0.5343833383 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1060500595 |
-2.142 | 1.0 | D | 0.821 | 0.74 | 0.606135397127 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1060500595 |
-2.142 | 1.0 | D | 0.821 | 0.74 | 0.606135397127 | gnomAD-4.0.0 | 1.59112E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7978 | likely_pathogenic | 0.8207 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.5878654720000001 | None | None | N |
| P/C | 0.9761 | likely_pathogenic | 0.9794 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9917 | likely_pathogenic | 0.994 | pathogenic | -2.554 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/E | 0.9879 | likely_pathogenic | 0.991 | pathogenic | -2.389 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/F | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/G | 0.9547 | likely_pathogenic | 0.964 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/H | 0.9846 | likely_pathogenic | 0.9886 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/I | 0.9785 | likely_pathogenic | 0.977 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/K | 0.9946 | likely_pathogenic | 0.9964 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/L | 0.9242 | likely_pathogenic | 0.9249 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.632733971 | None | None | N |
| P/M | 0.9845 | likely_pathogenic | 0.9855 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/N | 0.9849 | likely_pathogenic | 0.9884 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/Q | 0.9801 | likely_pathogenic | 0.9853 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.617491467 | None | None | N |
| P/R | 0.9829 | likely_pathogenic | 0.9881 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.608003076 | None | None | N |
| P/S | 0.9219 | likely_pathogenic | 0.9344 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.553797989 | None | None | N |
| P/T | 0.9088 | likely_pathogenic | 0.9262 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.601068497 | None | None | N |
| P/V | 0.9371 | likely_pathogenic | 0.9343 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9954 | likely_pathogenic | 0.9966 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.879 | 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.