Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1628 | 5107;5108;5109 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| N2AB | 1628 | 5107;5108;5109 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| N2A | 1628 | 5107;5108;5109 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| N2B | 1582 | 4969;4970;4971 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| Novex-1 | 1582 | 4969;4970;4971 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| Novex-2 | 1582 | 4969;4970;4971 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
| Novex-3 | 1628 | 5107;5108;5109 | chr2:178776982;178776981;178776980 | chr2:179641709;179641708;179641707 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1272404083  |
-0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1272404083 |
-0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs1272404083 |
-0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | gnomAD-4.0.0 | 4.05956E-06 | None | None | None | None | N | None | 0 | 6.15082E-05 | None | 0 | 0 | None | 0 | 0 | 3.61475E-06 | 0 | 0 |
| Y/F | rs1272404083 |
None | 0.999 | D | 0.689 | 0.773 | 0.780856518222 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs1272404083 |
None | 0.999 | D | 0.689 | 0.773 | 0.780856518222 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 0 | 6.54707E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/C | 0.9944 | likely_pathogenic | 0.9884 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.797599928 | None | None | N |
| Y/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.474 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.797599928 | None | None | N |
| Y/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.234 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/F | 0.4226 | ambiguous | 0.3351 | benign | -0.951 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.656790785 | None | None | N |
| Y/G | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -3.203 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/H | 0.9953 | likely_pathogenic | 0.993 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.79822499 | None | None | N |
| Y/I | 0.9815 | likely_pathogenic | 0.9638 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/L | 0.9411 | likely_pathogenic | 0.9126 | pathogenic | -1.234 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| Y/M | 0.9933 | likely_pathogenic | 0.9875 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/N | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -3.088 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.797599928 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/S | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -3.39 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.797599928 | None | None | N |
| Y/T | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.007 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/V | 0.9787 | likely_pathogenic | 0.9616 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/W | 0.9412 | likely_pathogenic | 0.9215 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.782 | 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.