Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
Read it in pieces

Kinds of Typos in DNA

Take the reading one piece at a time. For each piece: read it once, underline the sentence that says what happens, then look up any word in the list. Tap a word to see its definition.

1

Piece 1 of 2

DNA is read three letters at a time, and each three-letter word (a codon) either names one amino acid or says stop. Read this sentence three letters at a time, the way a ribosome reads mRNA: THE BIG RED DOG RAN FAR (each word is one amino acid). Edit 1 changes one letter so RED becomes a different word of the same length (a missense). Edit 2 turns DOG into a STOP word, so the reader stops and everything after is lost (a nonsense). Edit 3 deletes one letter, so every word after the deletion is re-grouped wrong and the rest is gibberish (a frameshift). Edit 4 lands exactly at the seam where two pieces are spliced together, so the wrong pieces get joined (a splice-site change).

Words in this piece
2

Piece 2 of 2

Real IRF6 variants sort into these same categories. R84C changes amino acid 84 from arginine (R) to cysteine (C): missense, full-length protein, possibly broken. R250X turns codon 250 into a STOP (the X): nonsense, protein cut short at position 250. An insertion or deletion not a multiple of 3 is a frameshift, scrambling everything downstream and usually ending in an early stop. A change at an intron/exon boundary is a splice-site variant. Reading the code: a letter, a number, a letter (R84C) means missense; a letter, a number, then X (R250X) means nonsense.

Explore

Reading the Research

What to read
Skim the variant tables in Leslie et al. (2012) just to see the variant codes (like R84C and R250X); you only need to recognize the format, not memorize them. Leslie EJ, et al. 2012. IRF6 variants in VWS and PPS. Genet Med. [PMID:23154523]
Why this source matters
These are the real IRF6 typo codes; learning to read them is how you tell a one-amino-acid swap from a cut short in Mateo's gene.
Reading moves
  1. Skim the title and abstract first to get the gist.
  2. Circle the one sentence that states the main claim.
  3. Box the evidence the authors give for that claim.
  4. Mark one sentence that confuses you, and move on.
Stop point
You do not need to understand the clinical details or the statistics. Just learn what the variant codes mean.
Your output
Write one claim-evidence sentence: which kind of typo leaves a full-length , and which removes part of it.

Now put it together: In one or two sentences, say what this whole reading is telling you about Mateo. Then go back to the lesson and fill in the guided notes.