Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1150 | 3673;3674;3675 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| N2AB | 1150 | 3673;3674;3675 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| N2A | 1150 | 3673;3674;3675 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| N2B | 1104 | 3535;3536;3537 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| Novex-1 | 1104 | 3535;3536;3537 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| Novex-2 | 1104 | 3535;3536;3537 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
| Novex-3 | 1150 | 3673;3674;3675 | chr2:178781196;178781195;178781194 | chr2:179645923;179645922;179645921 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.824 | 0.935 | 0.695812936145 | gnomAD-4.0.0 | 1.59076E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88225E-05 | 0 | 0 | 0 | 0 |
| D/N | rs879038939  |
-0.143 | 1.0 | D | 0.804 | 0.768 | 0.655467273365 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 1.23047E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs879038939 |
-0.143 | 1.0 | D | 0.804 | 0.768 | 0.655467273365 | gnomAD-4.0.0 | 2.05235E-06 | None | None | None | None | N | None | 5.97443E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99327E-07 | 0 | 0 |
| D/Y | rs879038939 |
1.447 | 1.0 | D | 0.91 | 0.888 | None | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.55E-05 | 0 |
| D/Y | rs879038939 |
1.447 | 1.0 | D | 0.91 | 0.888 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/Y | rs879038939 |
1.447 | 1.0 | D | 0.91 | 0.888 | None | gnomAD-4.0.0 | 3.71759E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08481E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | 0.792 | Stabilizing | 1.0 | D | 0.869 | deleterious | D | 0.738490547 | None | None | N |
| D/C | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | 0.662 | Stabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| D/E | 0.9788 | likely_pathogenic | 0.9775 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.574 | neutral | D | 0.681170719 | None | None | N |
| D/F | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | 1.494 | Stabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| D/G | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | 0.304 | Stabilizing | 1.0 | D | 0.824 | deleterious | D | 0.793888837 | None | None | N |
| D/H | 0.9957 | likely_pathogenic | 0.9959 | pathogenic | 1.088 | Stabilizing | 1.0 | D | 0.887 | deleterious | D | 0.659985757 | None | None | N |
| D/I | 0.9991 | likely_pathogenic | 0.999 | pathogenic | 2.103 | Highly Stabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| D/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | 0.52 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/L | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | 2.103 | Highly Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| D/M | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 2.437 | Highly Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| D/N | 0.9779 | likely_pathogenic | 0.9749 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.676281585 | None | None | N |
| D/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | 1.697 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/Q | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/R | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | 0.424 | Stabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| D/S | 0.9918 | likely_pathogenic | 0.9916 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/T | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/V | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | 1.697 | Stabilizing | 1.0 | D | 0.892 | deleterious | D | 0.759156231 | None | None | N |
| D/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 1.46 | Stabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/Y | 0.9949 | likely_pathogenic | 0.9948 | pathogenic | 1.77 | Stabilizing | 1.0 | D | 0.91 | deleterious | D | 0.72259699 | 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.