Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26290 | 79093;79094;79095 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| N2AB | 24649 | 74170;74171;74172 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| N2A | 23722 | 71389;71390;71391 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| N2B | 17225 | 51898;51899;51900 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| Novex-1 | 17350 | 52273;52274;52275 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| Novex-2 | 17417 | 52474;52475;52476 | chr2:178567264;178567263;178567262 | chr2:179431991;179431990;179431989 |
| 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 | rs1300310462  |
-2.665 | 0.058 | D | 0.63 | 0.56 | 0.415820034956 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.45161E-04 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1300310462 |
-2.665 | 0.058 | D | 0.63 | 0.56 | 0.415820034956 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1300310462 |
-2.665 | 0.058 | D | 0.63 | 0.56 | 0.415820034956 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1403341910 |
-1.022 | 0.698 | D | 0.871 | 0.74 | 0.764967751172 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 2.99E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1403341910 |
-1.022 | 0.698 | D | 0.871 | 0.74 | 0.764967751172 | gnomAD-4.0.0 | 1.61001E-06 | None | None | None | None | N | None | 0 | 2.33678E-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 | 0.4089 | ambiguous | 0.3703 | ambiguous | -2.182 | Highly Destabilizing | 0.058 | N | 0.63 | neutral | D | 0.571903243 | None | None | N |
| P/C | 0.7007 | likely_pathogenic | 0.6685 | pathogenic | -1.804 | Destabilizing | 0.998 | D | 0.905 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -3.276 | Highly Destabilizing | 0.956 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -3.063 | Highly Destabilizing | 0.86 | D | 0.842 | deleterious | None | None | None | None | N |
| P/F | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.212 | Destabilizing | 0.956 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.9659 | likely_pathogenic | 0.9559 | pathogenic | -2.685 | Highly Destabilizing | 0.86 | D | 0.845 | deleterious | None | None | None | None | N |
| P/H | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -2.529 | Highly Destabilizing | 0.998 | D | 0.89 | deleterious | None | None | None | None | N |
| P/I | 0.8049 | likely_pathogenic | 0.7748 | pathogenic | -0.765 | Destabilizing | 0.915 | D | 0.882 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.916 | Destabilizing | 0.86 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.81 | likely_pathogenic | 0.7985 | pathogenic | -0.765 | Destabilizing | 0.698 | D | 0.871 | deleterious | D | 0.651041028 | None | None | N |
| P/M | 0.942 | likely_pathogenic | 0.9317 | pathogenic | -0.921 | Destabilizing | 0.994 | D | 0.898 | deleterious | None | None | None | None | N |
| P/N | 0.995 | likely_pathogenic | 0.9942 | pathogenic | -2.283 | Highly Destabilizing | 0.956 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.9911 | likely_pathogenic | 0.9887 | pathogenic | -2.12 | Highly Destabilizing | 0.97 | D | 0.843 | deleterious | D | 0.651041028 | None | None | N |
| P/R | 0.9942 | likely_pathogenic | 0.9931 | pathogenic | -1.713 | Destabilizing | 0.97 | D | 0.877 | deleterious | D | 0.651242833 | None | None | N |
| P/S | 0.8357 | likely_pathogenic | 0.801 | pathogenic | -2.773 | Highly Destabilizing | 0.153 | N | 0.629 | neutral | D | 0.635021667 | None | None | N |
| P/T | 0.7072 | likely_pathogenic | 0.667 | pathogenic | -2.439 | Highly Destabilizing | 0.698 | D | 0.805 | deleterious | D | 0.651242833 | None | None | N |
| P/V | 0.4676 | ambiguous | 0.4294 | ambiguous | -1.215 | Destabilizing | 0.043 | N | 0.721 | prob.delet. | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.846 | Destabilizing | 0.998 | D | 0.88 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.498 | Destabilizing | 0.978 | D | 0.904 | 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.