Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26370 | 79333;79334;79335 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| N2AB | 24729 | 74410;74411;74412 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| N2A | 23802 | 71629;71630;71631 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| N2B | 17305 | 52138;52139;52140 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| Novex-1 | 17430 | 52513;52514;52515 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| Novex-2 | 17497 | 52714;52715;52716 | chr2:178567024;178567023;178567022 | chr2:179431751;179431750;179431749 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.7 | 0.709 | 0.453307948783 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99551E-07 | 0 | 0 |
| G/E | rs727505061  |
None | 1.0 | D | 0.933 | 0.805 | 0.72796072516 | gnomAD-4.0.0 | 4.10562E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.3973E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8053 | likely_pathogenic | 0.7979 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.552425037 | None | None | N |
| G/C | 0.9675 | likely_pathogenic | 0.9658 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/D | 0.996 | likely_pathogenic | 0.996 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/E | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -2.107 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.552171548 | None | None | N |
| G/F | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/H | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/I | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| G/L | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/M | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/N | 0.9949 | likely_pathogenic | 0.9949 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| G/Q | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/R | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.551918058 | None | None | N |
| G/S | 0.452 | ambiguous | 0.4741 | ambiguous | -1.473 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/T | 0.9567 | likely_pathogenic | 0.9612 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| G/V | 0.9951 | likely_pathogenic | 0.9955 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.564288322 | None | None | N |
| G/W | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/Y | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.89 | 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.