Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19483 | 58672;58673;58674 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| N2AB | 17842 | 53749;53750;53751 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| N2A | 16915 | 50968;50969;50970 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| N2B | 10418 | 31477;31478;31479 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| Novex-1 | 10543 | 31852;31853;31854 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| Novex-2 | 10610 | 32053;32054;32055 | chr2:178593853;178593852;178593851 | chr2:179458580;179458579;179458578 |
| 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/A | rs367624056  |
-2.594 | 1.0 | N | 0.82 | 0.404 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| P/A | rs367624056 |
-2.594 | 1.0 | N | 0.82 | 0.404 | None | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs367624056 |
-2.594 | 1.0 | N | 0.82 | 0.404 | None | gnomAD-4.0.0 | 5.13346E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57992E-06 | 0 | 0 |
| P/R | rs1329556229 |
-1.877 | 1.0 | D | 0.949 | 0.58 | 0.58934274002 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| P/R | rs1329556229 |
-1.877 | 1.0 | D | 0.949 | 0.58 | 0.58934274002 | gnomAD-4.0.0 | 4.78141E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.3101E-05 | 0 |
| P/T | None | -2.682 | 1.0 | D | 0.885 | 0.547 | 0.565722134273 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | None | -2.682 | 1.0 | D | 0.885 | 0.547 | 0.565722134273 | gnomAD-4.0.0 | 1.59386E-06 | None | None | None | None | N | None | 0 | 2.29284E-05 | 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 | 0.6104 | likely_pathogenic | 0.5426 | ambiguous | -2.251 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.490150467 | None | None | N |
| P/C | 0.909 | likely_pathogenic | 0.8821 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/E | 0.996 | likely_pathogenic | 0.995 | pathogenic | -3.036 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.953 | deleterious | None | None | None | None | N |
| P/G | 0.9871 | likely_pathogenic | 0.9848 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/I | 0.8022 | likely_pathogenic | 0.7066 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.952 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/L | 0.8543 | likely_pathogenic | 0.7885 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.535991579 | None | None | N |
| P/M | 0.9708 | likely_pathogenic | 0.9534 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| P/N | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.944 | deleterious | None | None | None | None | N |
| P/Q | 0.9934 | likely_pathogenic | 0.9917 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.534217152 | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9925 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.949 | deleterious | D | 0.534724131 | None | None | N |
| P/S | 0.9469 | likely_pathogenic | 0.93 | pathogenic | -2.896 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.522442773 | None | None | N |
| P/T | 0.8622 | likely_pathogenic | 0.8248 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.5354846 | None | None | N |
| P/V | 0.5175 | ambiguous | 0.4247 | ambiguous | -1.242 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.957 | 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.