Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34170 | 102733;102734;102735 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| N2AB | 32529 | 97810;97811;97812 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| N2A | 31602 | 95029;95030;95031 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| N2B | 25105 | 75538;75539;75540 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| Novex-1 | 25230 | 75913;75914;75915 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| Novex-2 | 25297 | 76114;76115;76116 | chr2:178534107;178534106;178534105 | chr2:179398834;179398833;179398832 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1559033550  |
None | 1.0 | D | 0.813 | 0.867 | 0.755046456886 | gnomAD-4.0.0 | 3.18193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.04705E-05 |
| W/G | rs778786999 |
None | 1.0 | D | 0.822 | 0.9 | 0.777323892525 | gnomAD-4.0.0 | 6.84157E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-07 | 0 | 0 |
| W/R | rs778786999 |
-2.075 | 1.0 | D | 0.867 | 0.88 | 0.951172234049 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/R | rs778786999 |
-2.075 | 1.0 | D | 0.867 | 0.88 | 0.951172234049 | gnomAD-4.0.0 | 6.84157E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9954 | likely_pathogenic | 0.9945 | pathogenic | -3.026 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/C | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.658257674 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.338 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/F | 0.6626 | likely_pathogenic | 0.5911 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/G | 0.9864 | likely_pathogenic | 0.9837 | pathogenic | -3.265 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.65805587 | None | None | N |
| W/H | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -2.245 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/I | 0.9833 | likely_pathogenic | 0.98 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/L | 0.9492 | likely_pathogenic | 0.9345 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.65805587 | None | None | N |
| W/M | 0.991 | likely_pathogenic | 0.9888 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.202 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.658257674 | None | None | N |
| W/S | 0.9943 | likely_pathogenic | 0.9941 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.658257674 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -3.134 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/V | 0.9838 | likely_pathogenic | 0.9803 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/Y | 0.9144 | likely_pathogenic | 0.8945 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.786 | 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.