Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23043 | 69352;69353;69354 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| N2AB | 21402 | 64429;64430;64431 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| N2A | 20475 | 61648;61649;61650 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| N2B | 13978 | 42157;42158;42159 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| Novex-1 | 14103 | 42532;42533;42534 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| Novex-2 | 14170 | 42733;42734;42735 | chr2:178577208;178577207;178577206 | chr2:179441935;179441934;179441933 |
| 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 | rs1251404237  |
None | 1.0 | N | 0.825 | 0.374 | 0.327419511103 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66667E-04 |
| P/A | rs1251404237 |
None | 1.0 | N | 0.825 | 0.374 | 0.327419511103 | gnomAD-4.0.0 | 6.84516E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65766E-05 |
| P/L | rs773833922 |
-0.824 | 1.0 | D | 0.879 | 0.475 | 0.73478975765 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.31E-05 | 0 | 0 |
| P/L | rs773833922 |
-0.824 | 1.0 | D | 0.879 | 0.475 | 0.73478975765 | gnomAD-4.0.0 | 4.77844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76903E-05 | 0 | 2.86025E-06 | 0 | 0 |
| P/S | rs1251404237 |
-1.361 | 1.0 | N | 0.838 | 0.423 | 0.4018988957 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1251404237 |
-1.361 | 1.0 | N | 0.838 | 0.423 | 0.4018988957 | gnomAD-4.0.0 | 1.36903E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.06457E-05 | 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 | 0.1112 | likely_benign | 0.1304 | benign | -1.283 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.503834636 | None | None | N |
| P/C | 0.5589 | ambiguous | 0.5951 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/D | 0.7802 | likely_pathogenic | 0.8277 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/E | 0.4719 | ambiguous | 0.5126 | ambiguous | -1.121 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/F | 0.6385 | likely_pathogenic | 0.6461 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/G | 0.5788 | likely_pathogenic | 0.6382 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.3793 | ambiguous | 0.3915 | ambiguous | -1.024 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.552374314 | None | None | N |
| P/I | 0.3747 | ambiguous | 0.3531 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/K | 0.3803 | ambiguous | 0.3823 | ambiguous | -0.988 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.1925 | likely_benign | 0.1869 | benign | -0.749 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.540764519 | None | None | N |
| P/M | 0.3896 | ambiguous | 0.3907 | ambiguous | -0.513 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.6189 | likely_pathogenic | 0.6726 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/Q | 0.2687 | likely_benign | 0.2794 | benign | -0.924 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/R | 0.2878 | likely_benign | 0.2927 | benign | -0.392 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.51875947 | None | None | N |
| P/S | 0.2405 | likely_benign | 0.2764 | benign | -1.103 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.482777997 | None | None | N |
| P/T | 0.2312 | likely_benign | 0.2405 | benign | -1.073 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.53350959 | None | None | N |
| P/V | 0.2777 | likely_benign | 0.2714 | benign | -0.892 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.866 | likely_pathogenic | 0.8751 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Y | 0.6848 | likely_pathogenic | 0.6886 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.889 | 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.